Lund Emily B, Stein Sarah L
Section of Dermatology, Department of Medicine and Pediatrics, University of Chicago Medicine, Chicago, Illinois.
Pediatr Dermatol. 2019 Sep;36(5):668-671. doi: 10.1111/pde.13882. Epub 2019 Jul 8.
Trichothiodystrophy describes a group of recessively inherited multisystem neuroectodermal disorders that takes its name from the characteristic feature of brittle, sulfur-deficient hair. We describe two siblings with trichothiodystrophy due to a novel genotype. The maternal mutation (p.Arg722Trp) is a previously described pathogenic mutation in ERCC2 that has been shown to result in a severe phenotype, while the paternal mutation (c.1480-1G > C) has not been previously reported. Our cases confirm the severe phenotype associated with the p.Arg722Trp mutation and expand the known genetic mutations associated with trichothiodystrophy by demonstrating a novel pathogenic mutation in ERCC2.
毛发硫营养不良症描述了一组隐性遗传的多系统神经外胚层疾病，其名称源于头发脆弱、缺硫这一特征。我们描述了两名因新基因型而患毛发硫营养不良症的同胞。母亲的突变（p.Arg722Trp）是先前已描述的ERCC2致病突变，已证明会导致严重表型，而父亲的突变（c.1480-1G>C）此前尚未见报道。我们的病例证实了与p.Arg722Trp突变相关的严重表型，并通过证明ERCC2中的一种新致病突变，扩展了与毛发硫营养不良症相关的已知基因突变。
