Department of Paediatric Dermatology, Cath. Children's Hospital Wilhelmstift, Hamburg, Germany.
Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn, Bonn, Germany.
Pediatr Dermatol. 2023 May-Jun;40(3):466-467. doi: 10.1111/pde.15306. Epub 2023 Apr 3.
Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by coarse, wiry, and twisted hair developing during early childhood, and followed by progressive hair loss with puberty. We report a sporadic case of a 4-year-old boy with clinical features suggestive of MUHH, in whom we identified the new pathogenic variant c.67C>T; p.(Gln23*) in U2HR. This finding extends the known spectrum of U2HR variants underlying MUHH and increases genetic information for further genotype-phenotype correlation.
玛丽·昂纳遗传性毛发稀少症（MUHH）是一种罕见的常染色体显性遗传性脱发疾病，其特征为儿童早期出现粗糙、卷曲、扭曲的毛发，随后在青春期出现进行性脱发。我们报告了一例 4 岁男孩的散发性病例，其临床表现提示 MUHH，我们在 U2HR 中发现了新的致病性变异 c.67C>T;p.(Gln23*)。这一发现扩展了已知导致 MUHH 的 U2HR 变异谱，并增加了遗传信息以进一步进行基因型-表型相关性研究。
