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• W2896443150 abstract "Abstract Background Congenital aniridia is a severe autosomal dominant binocular developmental disorder, the primary feature of which is congenital absence or hypoplasia of the iris. PAX 6 is the main disease‐causing gene of congenital aniridia; inheritance is autosomal dominant. But the current mutations do not fully explain this disorder. Methods We investigated the mutation profile of genes related in three Chinese families with congenital aniridia through targeted sequencing technology. And we validated the candidate variants by PCR ‐based Sanger sequencing. Different degree impairments of islet function were observed in the patients with aniridia by carbohydrate tolerance butter and insulin release tests in our study. Results We identified four novel mutations of PAX 6 from three Chinese families with congenital aniridia, which included heterozygous double mutation c.879_880del CA (p.S294Cfs*46) and c.1124C>G (p.P375R) in Family 1 with three patients, heterozygous frameshift mutation c.308delG (p.P103Qfs*21) in Family 2 with one patient, and c.1192delT (p.S398Pfs*126) in Family 3 with two patients. The three frameshift mutations of PAX 6 are co‐segregated with the aniridia from controls in the families, but the novel missense mutation is not co‐segregated with the phenotype. The frameshift mutations in Family 1 and Family 2 have effects to truncate the protein, but the frameshift mutation in Family 3 will prolong it. We confirmed the phenomenon of male gonadal mosaicism of PAX 6 by the sequencing of two linked novel mutations in Family 1. Most of the patients with isolated aniridia have different degrees of islet damage through related clinical tests. Conclusion It is therefore noteworthy that we found different types of pathogenic mutation, which have effects of truncating or prolonging protein leaded by frameshift mutation. Our results of this study extended the pathogenic mutation spectrum of PAX 6 for congenital aniridia and demonstrated the male germline chimerism by molecular experiments." @default.
• W2896443150 created "2018-10-26" @default.
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• W2896443150 date "2018-10-17" @default.
• W2896443150 modified "2023-09-26" @default.
• W2896443150 title "Extension of the mutation spectrum of <i>PAX6</i> from three Chinese congenital aniridia families and identification of male gonadal mosaicism" @default.
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• W2896443150 doi "https://doi.org/10.1002/mgg3.481" @default.
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