Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology
Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology
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DOI：
10.1111/cge.12845
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发表时间：
2017-05-01
影响因子：
3.5
通讯作者：
Guida, V.
中科院分区：
文献类型：
--
作者：
Piceci, F.;Morlino, S.;Guida, V.
小耳畸形是一种影响外耳的先天性缺陷，外耳看起来更小，有时畸形。在这里，我们描述了一个五代家庭孤立的双边小耳分离作为一个常染色体显性遗传特征。以前在一个具有非综合征性小耳症和听力损失的常染色体显性家族中观察到类似的特征，该家族与HOXA 2无义变体分离。HOXA 2双等位基因突变也被描述在一个常染色体隐性遗传性小耳畸形，听力障碍和不完全腭裂的近亲繁殖的家庭。在我们的家族中，序列分析检测到杂合蛋白截短无义变体[c.670G > T，p.（Glu224*）]在所有受影响的个体中分离，并且在公共数据库中不存在。本研究证实了HOXA 2基因在显性孤立性小耳畸形中的作用，为进一步明确HOXA 2基因对耳发育的影响奠定了基础。
Microtia is a congenital defect affecting external ears, which appear smaller and sometimes malformed. Here we describe a five-generation family with isolated bilateral microtia segregating as an autosomal dominant trait. Similar features have been previously observed in an autosomal dominant family with non-syndromic microtia and hearing loss segregating with a HOXA2 nonsense variant. HOXA2 biallelic mutations were also described in an inbreed family with autosomal recessive microtia, hearing impairment and incomplete cleft palate. In our family, sequence analysis detected a heterozygous protein truncating nonsense variant [c.670G > T, p.(Glu224*)] segregating in all affected individuals and absent in public databases. This study confirms the role of HOXA2 gene in dominant isolated microtia and contribute to further define the dysmorphogenetic effect of this gene on ear development.