Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction.
Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction.
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DOI：
10.1038/s41439-018-0011-0
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发表时间：
2018
影响因子：
1.5
通讯作者：
Kurosawa K
中科院分区：
文献类型：
--
作者：
Hayashi S;Yokoi T;Hatano C;Enomoto Y;Tsurusaki Y;Naruto T;Kobayashi M;Ida H;Kurosawa K
表皮生长因子受体（Epidermal growth factor receptor，EGFR）是一种识别表皮生长因子的受体，是细胞增殖和分化的重要调节因子。迄今为止，有3例重度外胚层发育不良病例报告是由EGFR的遗传性种系纯合功能丧失错义突变引起的。这是第一个报告的患者与双等位基因复合杂合突变的EGFR。
Epidermal growth factor receptor (EGFR), a receptor that recognizes epidermal growth factor, is a very important regulator of cell proliferation and differentiation. To date, three cases of severe ectodermal dysplasia were reported to be caused by an inherited germline homozygous loss-of-function missense mutation of EGFR. This is the first report of a patient with biallelic compound heterozygous mutations in EGFR.