Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Oncology Letters
      • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Biomedical Reports
      • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • Information for Authors
    • Information for Reviewers
    • Information for Librarians
    • Information for Advertisers
    • Conferences
  • Language Editing
Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • For Authors
    • For Reviewers
    • For Librarians
    • For Advertisers
    • Conferences
  • Language Editing
Login Register Submit
  • This site uses cookies
  • You can change your cookie settings at any time by following the instructions in our Cookie Policy. To find out more, you may read our Privacy Policy.

    I agree
Search articles by DOI, keyword, author or affiliation
Search
Advanced Search
presentation
Experimental and Therapeutic Medicine
Join Editorial Board Propose a Special Issue
Print ISSN: 1792-0981 Online ISSN: 1792-1015
Journal Cover
December-2021 Volume 22 Issue 6

Full Size Image

Sign up for eToc alerts
Recommend to Library

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

Medicine International

An International Open Access Journal Devoted to General Medicine.

Journal Cover
December-2021 Volume 22 Issue 6

Full Size Image

Sign up for eToc alerts
Recommend to Library

  • Article
  • Citations
    • Cite This Article
    • Download Citation
    • Create Citation Alert
    • Remove Citation Alert
    • Cited By
  • Similar Articles
    • Related Articles (in Spandidos Publications)
    • Similar Articles (Google Scholar)
    • Similar Articles (PubMed)
  • Download PDF
  • Download XML
  • View XML
Case Report Open Access

Prenatal diagnosis of a nonsense mutation in the L1CAM gene resulting in congenital hydrocephalus: A case report and literature review

  • Authors:
    • Rongyue Wang
    • Hua Chen
    • Xiaona Wang
    • Shiyuan Huang
    • Ailan Xie
    • Xinmei Wu
  • View Affiliations / Copyright

    Affiliations: Department of Obstetrics and Gynecology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, P.R. China, Department of Rehabilitation, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, P.R. China, Department of Clinical Laboratory, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, P.R. China
    Copyright: © Wang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 1416
    |
    Published online on: October 8, 2021
       https://doi.org/10.3892/etm.2021.10807
  • Expand metrics +
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )
Cited By (CrossRef): 0 citations Loading Articles...

This article is mentioned in:



Abstract

Congenital hydrocephalus is frequently caused by mutations in the L1 cell adhesion molecule (L1CAM) gene. The purpose of the present study was to identify possible causes of fetal hydrocephalus in a Chinese family. The samples from the parents and the hydrocephalic fetus were collected. Whole‑exome sequencing and in‑depth mutation analysis were performed. The identified variant, c.1267C>T.(p.Q423X), is situated on exon 11 of L1CAM gene (chromosome X:153134975). The fetus was confirmed to be hemizygous for the nonsense mutation and the mother was a heterozygous carrier. The mutation turns a glutamine into a premature stop codon at amino acid position 423. In conclusion, in the present study, a nonsense mutation in the L1CAM gene was identified during the prenatal diagnosis of a congenital hydrocephalic fetus from a Chinese family. The diagnosis highlighted the necessity of genetic screening for prenatal diagnosis.
View Figures
View References

1 

Moos M, Tacke R, Scherer H, Teplow D, Früh K and Schachner M: Neural adhesion molecule L1 as a member of the immunoglobulinsuperfamily with binding domains similar to fibronectin. Nature. 334:701–703. 1988.PubMed/NCBI View Article : Google Scholar

2 

Basel-Vanagaite L, Straussberg R, Friez MJ, Inbar D, Korenreich L, Shohat M and Schwartz CE: Expanding the phenotypic spectrum of L1CAM-associated disease. Clin Genet. 69:414–419. 2006.PubMed/NCBI View Article : Google Scholar

3 

Patzke C, Acuna C, Giam LR, Wernig M and Sudhof TC: Conditional deletion of L1CAM in human neurons impairs both axonal and dendritic arborization and action potential generation. J Exp Med. 213:499–515. 2016.PubMed/NCBI View Article : Google Scholar

4 

Chang S, Rathjen FG and Raper JA: Extension of neuritis on axons is impaired by antibodies against specific neural cell surface glycoproteins. J Cell Biol. 104:355–362. 1987.PubMed/NCBI View Article : Google Scholar

5 

Rathjen FG and Schachner M: Immunocytological and biochemical characterization of a new neuronal cell surface component (L1 antigen) which is involved in cell adhesion. EMBO J. 3:1–10. 1984.PubMed/NCBI

6 

Ferese R, Zampatti S, Griguoli AMP, Fornai F, Giardina E, Barrano G, Albano V, Campopiano R, Scala S, Novelli G and Gambardella S: A new splicing mutation in the L1CAM gene responsible for X-linked hydrocephalus (HSAS). J Mol Neurosci. 59:376–381. 2016.PubMed/NCBI View Article : Google Scholar

7 

Finckh U, Schröder J, Ressler B, Veske A and Gal A: Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease. Am J Med Genet. 92:40–46. 2000.PubMed/NCBI View Article : Google Scholar

8 

Okamoto N, Del Maestro R, Valero R, Monros E, Poo P, Kanemura Y and Yamasaki M: Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM. J Hum Genet. 49:334–337. 2004.PubMed/NCBI View Article : Google Scholar

9 

Fransen E, Van Camp G, D'Hooge R, Vits L and Willems PJ: Genotype-phenotype correlation in L1 associated diseases. J Med Genet. 35:399–404. 1998.PubMed/NCBI View Article : Google Scholar

10 

Vos YJ, de Walle HE, Bos KK, Stegeman JA, Ten Berge AM, Bruining M, van Maarle MC, Elting MW, den Hollander NS, Hamel B, et al: Genotype-phenotype correlationsin L1 syndrome: A guide for genetic counselling and mutation analysis. J Med Genet. 47:169–175. 2010.PubMed/NCBI View Article : Google Scholar

11 

Yamasaki M, Thompson P and Lemmon V: CRASH syndrome: Mutations in L1CAM correlate with severity of the disease. Neuropediatrics. 28:175–178. 1997.PubMed/NCBI View Article : Google Scholar

12 

Rekate HL: The definition and classification of hydrocephalus: A personal recommendation to stimulate debate. Cerebrospinal Fluid Res. 5(2)2008.PubMed/NCBI View Article : Google Scholar

13 

Vos YJ and Hofstra RM: An updated and upgraded L1CAM mutation database. Hum Mutat. 31:E1102–E1109. 2010.PubMed/NCBI View Article : Google Scholar

14 

Schrander-Stumpel C and Fryns JP: Congenital hydrocephalus: Nosology and guidelines for clinical approach and genetic counselling. Eur J Pediatr. 157:355–362. 1998.PubMed/NCBI View Article : Google Scholar

15 

Noronha TR, Rohr SS and Chauffaille MLLF: Identifying the similarities and differences between single nucleotide polymorphism array (SNPa) analysis and karyotyping in acute myeloid leukemia and myelodysplastic syndromes. Rev Bras Hematol Hemoter. 37:48–54. 2015.PubMed/NCBI View Article : Google Scholar

16 

Guo D, Shi Y, Jian W, Fu Y, Yang H, Guo M, Yong W, Chen G, Deng H, Qin Y, et al: A novel nonsense mutation in the L1CAM gene responsible for X-linked congenital hydrocephalus. J Gene Med. 22(e3180)2020.PubMed/NCBI View Article : Google Scholar

17 

Kong W, Wang X, Zhao J, Kang M, Xi N and Li S: A new frameshift mutation in L1CAM producing X-linked hydrocephalus. Mol Genet Genomic Med. 8(e1031)2019.PubMed/NCBI View Article : Google Scholar

18 

Ochando I, Vidal V, Gascón J, Acién M, Urbano A and Rueda J: Prenatal diagnosis of X-linked hydrocephalus in a family with a novel mutation in L1CAM gene. J Obstet Gynaecol. 36:403–405. 2016.PubMed/NCBI View Article : Google Scholar

19 

Isik E, Onay H, Atik T, Akgun B, Cogulu O and Ozkinay F: Clinical and genetic features of L1 syndrome patients: Definition of two novel mutations. Clin Neurol Neurosurg. 172:20–23. 2018.PubMed/NCBI View Article : Google Scholar

20 

Vinci M, Falco M, Castiglia L, Grillo L, Spalletta A, Sturnio M, Galesi O, Salemi M, Gloria A, Amata S, et al: Identification of novel mutations in L1CAM gene by a DHPLC-based assay. Genes Genomics. 38:1159–1164. 2016.

21 

Gu SM, Orth U, Vske A, Enders H, Klunder K, Schlosser M, Engel W, Schwinger E and Gal A: Five novel mutations in the L1CAM gene in families with X linked hydrocephalus. J Med Genet. 33:103–106. 1996.PubMed/NCBI View Article : Google Scholar

22 

Gu SM, Orth U, Zankl M, Schröder J and Gal A: Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait. Am J Med Genet. 71:336–340. 1997.PubMed/NCBI View Article : Google Scholar

23 

Kanemura Y, Okamoto N, Sakamoto H, Shofuda T, Kamiguchi H and Yamasaki M: Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus. J Neurosurg. 105 (Suppl 5):S403–S412. 2006.PubMed/NCBI View Article : Google Scholar

24 

Jackson SR, Guner YS, Woo R, Randolph LM, Ford H and Shin CE: L1CAM mutation in association with X-linked hydrocephalus and Hirschsprung's disease. Pediatr Surg Int. 25:823–825. 2009.PubMed/NCBI View Article : Google Scholar

25 

Takenouchi T, Nakazawa M, Kanemura Y, Shimozato S, Yamasaki M, Takahashi T and Kosaki K: Hydrocephalus with Hirschsprung disease: Severe end of X-linked hydrocephalus spectrum. Am J Med Genet A. 158:812–815. 2012.PubMed/NCBI View Article : Google Scholar

26 

Adle-Biassette H, Saugier-Veber P, Fallet-Bianco C, Delezoide AL, Razavi F, Drouot N, Bazin A, Beaufrère AM, Bessières B, Blesson S, et al: Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: Evidence for closely related clinical entities of unknown molecular bases. Acta Neuropathol. 126:427–442. 2013.PubMed/NCBI View Article : Google Scholar

27 

Marín R, Ley-Martos M, Gutiérrez G, Rodríguez-Sánchez F, Arroyo D and Mora-López F: Three cases with L1 syndrome and two novel mutations in the L1CAM gene. Eur J Pediatr. 174:1541–1544. 2015.PubMed/NCBI View Article : Google Scholar

28 

Kumar P, Henikoff S and Ng PC: Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 4:1073–1081. 2009.PubMed/NCBI View Article : Google Scholar

29 

Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS and Sunyaev SR: A method and server for predicting damaging missense mutations. Nat Methods. 7:248–249. 2010.PubMed/NCBI View Article : Google Scholar

30 

Peiro JL and Fabbro MD: Fetal therapy for congenital hydrocephalus-where we came from and where we are going. Childs Nerv Syst. 36:1697–1712. 2020.PubMed/NCBI View Article : Google Scholar

31 

Manning FA, Harrison MR and Rodeck C: Catheter shunts for fetal hydronephrosis and hydrocephalus. Report of the international fetal surgery registry. N Engl J Med. 315:336–340. 1986.PubMed/NCBI View Article : Google Scholar

32 

Litwinska M, Litwinska E, Czaj M, Polis B, Polis L and Szaflik K: Ventriculo-amniotic shunting for severe fetal ventriculomegaly. Acta Obstet Gynecol Scand. 98:1172–1177. 2019.PubMed/NCBI View Article : Google Scholar

33 

Serikawa T, Nishiyama K, Tohyama J, Tazawa R, Goto K, Kuriyama Y, Haino K, Kanemura Y, Yamasaki M, Nakata K, et al: Prenatal molecular diagnosis of X-linked hydrocephalus via a silent C924T mutation in the L1CAM gene. Congenit Anom (Kyoto). 54:243–245. 2014.PubMed/NCBI View Article : Google Scholar

34 

Weller S and Gärtner J: Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene. Hum Mutat. 18:1–12. 2001.PubMed/NCBI View Article : Google Scholar

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Wang R, Chen H, Wang X, Huang S, Xie A and Wu X: Prenatal diagnosis of a nonsense mutation in the L1CAM gene resulting in congenital hydrocephalus: A case report and literature review. Exp Ther Med 22: 1416, 2021.
APA
Wang, R., Chen, H., Wang, X., Huang, S., Xie, A., & Wu, X. (2021). Prenatal diagnosis of a nonsense mutation in the L1CAM gene resulting in congenital hydrocephalus: A case report and literature review. Experimental and Therapeutic Medicine, 22, 1416. https://doi.org/10.3892/etm.2021.10807
MLA
Wang, R., Chen, H., Wang, X., Huang, S., Xie, A., Wu, X."Prenatal diagnosis of a nonsense mutation in the L1CAM gene resulting in congenital hydrocephalus: A case report and literature review". Experimental and Therapeutic Medicine 22.6 (2021): 1416.
Chicago
Wang, R., Chen, H., Wang, X., Huang, S., Xie, A., Wu, X."Prenatal diagnosis of a nonsense mutation in the L1CAM gene resulting in congenital hydrocephalus: A case report and literature review". Experimental and Therapeutic Medicine 22, no. 6 (2021): 1416. https://doi.org/10.3892/etm.2021.10807
Copy and paste a formatted citation
x
Spandidos Publications style
Wang R, Chen H, Wang X, Huang S, Xie A and Wu X: Prenatal diagnosis of a nonsense mutation in the L1CAM gene resulting in congenital hydrocephalus: A case report and literature review. Exp Ther Med 22: 1416, 2021.
APA
Wang, R., Chen, H., Wang, X., Huang, S., Xie, A., & Wu, X. (2021). Prenatal diagnosis of a nonsense mutation in the L1CAM gene resulting in congenital hydrocephalus: A case report and literature review. Experimental and Therapeutic Medicine, 22, 1416. https://doi.org/10.3892/etm.2021.10807
MLA
Wang, R., Chen, H., Wang, X., Huang, S., Xie, A., Wu, X."Prenatal diagnosis of a nonsense mutation in the L1CAM gene resulting in congenital hydrocephalus: A case report and literature review". Experimental and Therapeutic Medicine 22.6 (2021): 1416.
Chicago
Wang, R., Chen, H., Wang, X., Huang, S., Xie, A., Wu, X."Prenatal diagnosis of a nonsense mutation in the L1CAM gene resulting in congenital hydrocephalus: A case report and literature review". Experimental and Therapeutic Medicine 22, no. 6 (2021): 1416. https://doi.org/10.3892/etm.2021.10807
Follow us
  • Twitter
  • LinkedIn
  • Facebook
About
  • Spandidos Publications
  • Careers
  • Cookie Policy
  • Privacy Policy
How can we help?
  • Help
  • Live Chat
  • Contact
  • Email to our Support Team