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Application of targeted exome and whole‐exome sequencing for Chinese families with Stargardt disease
Author(s) -
Dan Handong,
Huang Xin,
Xing Yiqiao,
Shen Yin
Publication year - 2020
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/ahg.12361
Subject(s) - exome sequencing , abca4 , stargardt disease , sanger sequencing , exome , genetics , biology , gene , human genetics , dna sequencing , computational biology , bioinformatics , mutation , phenotype
Objective The aim of this study was to investigate pathogenic variants and molecular etiologies of Stargardt disease (STGD) in a cohort of Chinese families. Materials and Methods A cohort of 12 unrelated STGD families diagnosed on the basis of clinical manifestations underwent analysis by targeted exome or whole‐exome sequencing. Bioinformatics analysis, Sanger sequencing, and cosegregation analysis of available family members were used to validate sequencing data and confirm the presence of disease‐causing genes. Results Using targeted exome and whole‐exome sequencing, we found that eight families had disease‐causing variants in the ABCA4 gene, one family had only one heterozygous variant in the ABCA4 gene, and the remaining three families have not been identified with any disease‐causing variants for STGD. We identified 15 variants in the ABCA4 gene; of these, five variants have not been previously described for STGD. Conclusion The findings in this study expand the data regarding the frequency and spectrum of variants in the ABCA4 gene, thus potentially enriching our understanding of the molecular basis of STGD. Moreover, they constitute clues for future STGD diagnosis and therapy.