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首页> 外文期刊>Archives of dermatological research. >A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities
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A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities

机译：新近鉴定出的HR基因的错义突变与Marie Unna遗传性发育不全1的新型异常表型有关，包括肢体畸形

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摘要

Marie Unna Hereditary Hypotrichosis 1 (MUHH1; OMIM 146550), a rare monogenic condition characterized by the development of sparse, twisted hair or complete hair loss, is the consequence of mutations located in the hairless (HR) gene. We have identified a 68-year-old Hungarian woman affected by alopecia universalis and limb deformities of all four extremities. Direct sequencing of the coding regions of the HR gene revealed a novel missense mutation in the third exon of the HR gene (c.974G/A, p.Gly325Asp). The affected family member carried the mutation in a heterozygous form, while the only available, clinically unaffected family member (the son of the patient) and the unrelated controls carried the wild type sequence. The association between the presence of HR gene mutations and the development of alopecia is wellestablished, however, further studies are needed to elucidate the putative role of this novel HR mutation in the development of limb deformities.
机译：Marie Unna遗传性hyporichosis 1（MUHH1; OMIM 146550）是一种罕见的单基因病，特征是稀疏，扭曲的头发或完全脱发，是无毛（HR）基因突变的结果。我们确定了一名68岁的匈牙利妇女，患有普遍性脱发和所有四个肢体的肢体畸形。 HR基因编码区的直接测序揭示了HR基因第三个外显子中的一个新的错义突变（c.974G / A，p.Gly325Asp）。受影响的家庭成员以杂合子形式携带突变，而唯一可用的，临床上不受影响的家庭成员（患者的儿子）和无关的对照携带野生型序列。 HR基因突变的存在与脱发的发展之间的关联是众所周知的，但是，需要进一步的研究来阐明这种新的HR突变在肢体畸形发展中的假定作用。

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