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Spectrum, frequency, and genotype-phenotype of mutations in SPATA7.

Molecular vision - 1 Jan 2019

Xiao Xueshan, Sun Wenmin, Li Shiqiang, Jia Xiaoyun, Zhang Qingjiong

Abstract excerpt

Purpose: To describe the mutation spectrum of SPATA7 and associated ocular phenotypes. Methods: As part of a continuing examination of the genetic basis of inherited ophthalmic diseases, sequencing variations in SPATA7 were identified in sequencing data from 5,090 probands. Mutations in SPATA7 were identified in 12 Chinese patients from ten families. Family history and clinical data were examined in detail in...

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PMID: 31908400
PMCID: PMC6925664

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