NDLI: Identification of novel pathogenic <i>ABCA4</i> variants in a Han Chinese family with Stargardt disease.

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Identification of novel pathogenic ABCA4 variants in a Han Chinese family with Stargardt disease.

Content Provider	Europe PMC
Author	Xiang, Qin Cao, Yanna Xu, Hongbo Guo, Yi Yang, Zhijian Xu, Lu Yuan, Lamei Deng, Hao
Copyright Year	2019
Abstract	Stargardt disease (STGD1, OMIM 248200) is a common hereditary juvenile or early adult onset macular degeneration. It ultimately leads to progressive central vision loss. Here, we sought to identify gene mutations associated with STGD1 in a three-generation Han Chinese pedigree by whole exome sequencing and Sanger sequencing. Two novel potentially pathogenic variants in a compound heterozygous state, c.3607G>T (p.(Gly1203Trp)) and c.6722T>C (p.(Leu2241Pro)), in the ATP binding cassette subfamily A member 4 gene (ABCA4) were identified as contributing to the family’s STGD1 phenotype. These variants may impact the ABCA4 protein structure and reduce the retinal-activated ATPase activity, leading to abnormal all-trans retinal accumulation in photoreceptor outer segments and in retinal pigment epithelium cells. The present study broadens the mutational spectrum of the ABCA4 responsible for STGD1. A combination of whole exome sequencing and Sanger sequencing is likely to be a time-saving and cost-efficient approach to screen pathogenic variants in genetic disorders caused by sizable genes, as well as avoiding misdiagnosis. These results perhaps refine genetic counseling and ABCA4-targetted treatments for families affected by STGD1.
Page Count	9
ISSN	01448463
Volume Number	39
PubMed Central reference number	PMC6331664
Issue Number	1
PubMed reference number	30563929
Journal	Bioscience Reports [Biosci. Rep]
e-ISSN	15734935
DOI	10.1042/BSR20180872
Language	English
Publisher	Portland Press Ltd.
Publisher Date	2019-01-15
Access Restriction	Open
Rights License	This is an open access article published by Portland Press Limited on behalf of the Biochemical Society and distributed under the Creative Commons Attribution License 4.0 (CC BY). © 2019 The Author(s).
Subject Keyword	ABCA4 missense variant Stargardt disease whole exome sequencing
Content Type	Text
Resource Type	Article
Subject	Cell Biology Molecular Biology Biochemistry Biophysics

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