|
1
|
Gibbons RJ, Brueton L, Buckle VJ, Burn J,
Clayton-Smith J, Davison BC, Gardner RJ, Homfray T, Kearney L,
Kingston HM, et al: Clinical and hematologic aspects of the
X-linked alpha-thalassemia/mental disability syndrome (ATR-X). Am J
Med Genet. 55:288–299. 1995. View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Gibbons RJ: Alpha thalassaemia-mental
disability, X linked. Orphanet J Rare Dis. 4:15Review2006.
View Article : Google Scholar
|
|
3
|
Stevenson RE: Alpha-Thalassemia X-linked
Intellectual Disability Syndrome. GeneReviews((R). Adam MP,
Ardinger HH and Pagon RA: University of Washington; Seattle, WA:
1993
|
|
4
|
Stevenson RE: Alpha-Thalassemia X-Linked
Intellectual Disability Syndrome. 2000 Jun 19 [Updated 2020 May
28]. GeneReviews® [Internet]. Adam MP, Ardinger HH,
Pagon RA, et al: University of Washington; Seattle, WA: 1993-2020,
simplehttps://www.ncbi.nlm.nih.gov/books/NBK1449/February
5–2020
|
|
5
|
Garber KB, Warren ST and Visootsak J:
Chapter 107-Fragile X Syndrome and X-linked intellectual
disability. Emery and Rimoin's Principles and Practice of Medical
Genetics (6th edition). Rimoin. 1–27. 2013. View Article : Google Scholar
|
|
6
|
Lin SB, Sun HY, Song XM, Chen LM, Du ML
and Chen Z: Mutation analysis for a Chinese family featuring
X-linked alpha thalassemia/mental disability syndrome. Zhonghua Yi
Xue Yi Chuan Xue Za Zhi. 654–658. 2013.(In Chinese). PubMed/NCBI
|
|
7
|
Argentaro A, Yang JC, Chapman L, Kowalczyk
MS, Gibbson RJ, Higgs DR, Neuhaus D and Rhodes D: Structural
consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L
(ADD) domain of the chromatin-associated protein ATRX. Proc Natl
Acad Sci USA. 104:11939–11944. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Abidi FE, Cardoso C, Lossi AM, Lowry RB,
Depetris D, Mattéi MG, Lubs HA, Stevenson RE, Fontes M, Chudley AE
and Schwartz CE: Mutation in the 5′ alternatively spliced region of
the XNP/ATR-X gene causes Chudley-Lowry syndrome. Eur J Hum Genet.
13:176–183. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Altiner Ş and Raymond L: A novel ATRX
mutation presenting with intellectual disability and severe
kyphoscoliosis. Fetal Pediatr Pathol. 1–5. 2019. View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Basehore MJ, Michaelson-Cohen R,
Levy-Lahad E, Sismani C, Bird LM, Friez MJ, Walsh T, Abidi F,
Holloway L, Skinner C, et al: Alpha-thalassemia intellectual
disability: Variable phenotypic expression among males with a
recurrent nonsense mutation-c.109C>T (p.R37X). Clin Genet.
87:461–466. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
11
|
Bouazzi H, Thakur S, Trujillo C, Alwasiyah
MK and Munnich A: Novel ATRX gene damaging missense mutation
c.6740A>C segregates with profound to severe intellectual
deficiency without alpha thalassemia. Indian J Med Res. 143:43–48.
2016. View Article : Google Scholar : PubMed/NCBI
|
|
12
|
Hamzeh AR, Nair P, Mohamed M, Saif F,
Tawfiq N, Al-Ali MT and Bastaki F: A novel missense mutation in
ATRX uncovered in a Yemeni family leads to alpha-thalassemia/mental
disability syndrome without alpha-thalassemia. Ir J Med Sci.
186:333–337. 2017. View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Ion A, Telvi L, Chaussain JL, Galacteros
F, Valayer J, Fellous M and McElreavey K: A novel mutation in the
putative DNA helicase XH2 is responsible for male-to-female sex
reversal associated with an atypical form of the ATR-X syndrome. Am
J Hum Genet. 58:1185–1191. 1996.PubMed/NCBI
|
|
14
|
Li L, Yu J, Zhang X, Han M, Liu W, Li H
and Liu S: A novel ATRX mutation causes SmithFinemanMyers syndrome
in a Chinese family. Mol Med Rep. 21:387–392. 2020.PubMed/NCBI
|
|
15
|
Masliah-Planchon J, Lévy D, Héron D,
Giuliano F, Badens C, Fréneaux P, Galmiche L, Guinebretierre JM,
Cellier C, Waterfall JJ, et al: Does ATRX germline variation
predispose to osteosarcoma? Three additional cases of osteosarcoma
in two ATR-X syndrome patients. Eur J Hum Genet. 26:1217–1221.
2018. View Article : Google Scholar : PubMed/NCBI
|
|
16
|
Moncini S, Bedeschi MF, Castronovo P,
Crippa M, Calvello M, Garghentino RR, Scuvera G, Finelli P and
Venturin M: ATRX mutation in two adult brothers with non-specific
moderate intellectual disability identified by exome sequencing.
Meta Gene. 1:102–108. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
17
|
Thakur S, Ishrie M, Saxena R, Danda S,
Linda R, Viswabandaya A and Verma IC: ATR-X syndrome in two
siblings with a novel mutation (c.6718C>T mutation in exon 31).
Indian J Med Res. 134:483–486. 2011.PubMed/NCBI
|
|
18
|
Villard L, Toutlain A, Lossi AM, Gecz J,
Houdayer C, Moraine C and Fontès M: Splicing mutation in the ATR-X
gene can lead to a dysmorphic mental disability phenotype without
alpha-thalassemia. Am J Hum Genet. 58:499–505. 1996.PubMed/NCBI
|
|
19
|
Villard L, Fontés M, Adès LC and Gecz:
Identification of a mutation in the XNP/ATR-X gene in a family
reported as Smith-Fineman-Myers syndrome. Am J Med Genet. 91:83–85.
2000. View Article : Google Scholar : PubMed/NCBI
|
|
20
|
Wilkie AO, Gibbons RG, Higgs DR and
Pembrey ME: X linked alpha thalassaemia/mental disability: Spectrum
of clinical features in three related males. J Med Genet.
28:738–741. 1991. View Article : Google Scholar : PubMed/NCBI
|
|
21
|
Yan H, Shi Z, Wu Y, Xiao J, Gu Q, Yang Y,
Li M, Gao K, Chen Y, Yang X, et al: Targeted next generation
sequencing in 112 Chinese patients with intellectual
disability/developmental delay: Novel mutations and candidate gene.
BMC Med Genet. 20:802019. View Article : Google Scholar : PubMed/NCBI
|
|
22
|
Dyer MA, Qadeer ZA, Valle-Garcia D and
Bernstein E: ASTRX and DAXX: Mechanisms and mutation. Cold Spring
Harb Perspect Med. 7:a0265672017. View Article : Google Scholar : PubMed/NCBI
|
|
23
|
Mitson M, Kelley LA, Sternberg MJ, Higgs
DR and Gibbson RJ: Functional significance of mutations in the Snf2
domain of ATRX. Hum Mol Genet. 20:2603–2610. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
24
|
Naumova AK, Greenwood CM and Morgan K:
Imprinting and deviation from Mendelian transmission ratios.
Genome. 44:311–320. 2001. View
Article : Google Scholar : PubMed/NCBI
|
|
25
|
Huang LO, Labbe A and Infante-Rivard C:
Transmission ratio distortion: Review of concept and implications
for genetic association studies. Hum Genet. 132:245-263. 2013.
View Article : Google Scholar
|
|
26
|
LeMair-Adkins R and Hunt PA: Nonrandom
segregation of the mouse univalent X chromosome: Evidence of
spindle-mediated meiotic drive. Genetics. 156:775–783.
2000.PubMed/NCBI
|
|
27
|
De La Fuente R, Baumann C and Viveiros MM:
Chromatin structure and ATRX function in mouse oocytes. Results
Probl Cell Differ. 55:45–68. 2012. View Article : Google Scholar : PubMed/NCBI
|
