后代
外显子组测序
先天性皮肤发育不全
外胚层发育不良
遗传学
杂合子优势
复合杂合度
生物
医学
头皮
皮肤病科
基因
突变
等位基因
怀孕
作者
Ariana Kariminejad,Hassan Vahidnezhad,Siavash Ghaderi‐Sohi,Ali R. Ghannadan,Leila Youssefian,Elham Parsimehr,Mehrshid Faraji Zonooz,Mohammad Hasan Kariminejad,Jouni Uitto,Hossein Najmabadi,Raoul C. M. Hennekam
摘要
Abstract Aplasia cutis congenita (ACC) is a heterogeneous group of disorders characterized by localized or widespread absence of skin. ACC can occur isolated or as part of a syndrome. Here we report two consanguineous families, each with two affected offspring. Affected individuals showed widespread ACC while the skin in between had a normal appearance. Ears and nose of the four patients were underdeveloped, otherwise there were no unusual physical characteristics and no internal organ anomalies. “Whole” exome sequencing (WES) of the mother of Family 1 yielded a pathogenic heterozygote variant in ITGB4 . The father and healthy offspring were heterozygous for the same variant. WES of the mother of Family 2 yielded a variant in PLEC1 . The father and grandmother, who had a history of two offspring with fatal ACC, were heterozygous for the same variant. PLEC1 and ITGB4 have both been previously been reported in association with ACC. We compare findings in earlier reported individuals with variants in ITGB4 and PLEC1 , and provide a short summary of other entities going along with ACC.
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