Open Access

Gene screening facilitates diagnosis of complicated symptoms: A case report

  • Authors:
    • Hong Duan
    • Di Zhang
    • Jing Cheng
    • Yu Lu
    • Huijun Yuan
  • View Affiliations

  • Published online on: September 22, 2017     https://doi.org/10.3892/mmr.2017.7590
  • Pages:7915-7922
  • Copyright: © Duan et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

0

Abstract

Gene mutation has an important role in disease pathogenesis; therefore, genetic screening is a useful tool for diagnosis. The present study screened pathogenic genes, ectodysplasin A (EDA) and lamin A/C (LMNA), in a patient with suspected syndromic hearing impairment and various other symptoms including tooth and skin abnormalities. Large‑scale sequencing of 438 deafness‑associated genes and whole‑genome sequencing was also performed. The present findings did not identify copy number variation and mutations in EDA; therefore, excluding the possibility of EDA‑initiated ectodermal dysplasia syndrome. A synonymous mutation in LMNA, possibly due to a splicing abnormality, did not elucidate the pathogenesis of Hutchinson‑Gilford progeria syndrome. Whole‑genome sequencing revealed copy number variations or mutations in various candidate genes which may elucidate part of the symptoms observed. The copy number variations and mutations were also used to identify single nucleotide variations (SNVs) in crystallin mu (CRYM), RAB3 GTPase activating protein catalytic subunit 1 (RAB3GAP1) and Wnt family member 10A (WNT10A), implicated in deafness, hypogonadism and tooth/skin abnormalities, respectively. The importance of an existing SNV in CRYM and a novel SNV in RAB3GAP1 in pathogenesis remains to be further elucidated. The WNT10A p.G213S mutation was confirmed to be the etiological cause of tooth agenesis and ectodermal dysplasia as previously described. It was concluded that a mutation in WNT10A may be the reason for some of the symptoms observed in the patient; however, other genes may also be involved for other symptoms. The findings of the present study provide putative gene mutations that require further investigation in order to determine their roles in pathogenesis.

Related Articles

Journal Cover

December 2017
Volume 16 Issue 6

Print ISSN: 1791-2997
Online ISSN:1791-3004

2016 Impact Factor: 1.692
Ranked #19/128 Medicine Research and Experimental
(total number of cites)

Sign up for eToc alerts

Recommend to Library

Copy and paste a formatted citation
APA
Duan, H., Zhang, D., Cheng, J., Lu, Y., & Yuan, H. (2017). Gene screening facilitates diagnosis of complicated symptoms: A case report. Molecular Medicine Reports, 16, 7915-7922. https://doi.org/10.3892/mmr.2017.7590
MLA
Duan, H., Zhang, D., Cheng, J., Lu, Y., Yuan, H."Gene screening facilitates diagnosis of complicated symptoms: A case report". Molecular Medicine Reports 16.6 (2017): 7915-7922.
Chicago
Duan, H., Zhang, D., Cheng, J., Lu, Y., Yuan, H."Gene screening facilitates diagnosis of complicated symptoms: A case report". Molecular Medicine Reports 16, no. 6 (2017): 7915-7922. https://doi.org/10.3892/mmr.2017.7590