Department of Clinical Genetics Dermatology, Maastricht University Medical Center, Maastricht, the Netherlands.
J Eur Acad Dermatol Venereol. 2011 May;25(5):592-5. doi: 10.1111/j.1468-3083.2010.03782.x.
Focal dermal hypoplasia (FDH) is an X-linked dominant disorder caused by nonsense mutations and deletions in the PORCN gene coding for a transmembrane endoplasmic reticulum protein required for Wingless signalling. Symptoms consist mainly of linear atrophic skin defects, skeletal deformities and, in many cases, mental retardation. Osteopathia striata is a nearly constant feature. Approximately 90% of patients are women. A few instances of father-to-daughter transmission and a number of sporadic male cases presumably as a result of somatic mosaicism have been recorded.
The aim of this study was to demonstrate the presence of somatic mosaicism for PORCN mutations in a male patient.
We sequenced the PORCN gene in different tissues from a boy with symptoms of FDH.
We demonstrate post-zygotic mosaicism for a novel deletion in the PORCN gene.
A novel PORCN deletion, present in a post-zygotic mosaic, causes focal dermal hyplasia in a male patient.
局限性皮肤发育不良（FDH）是一种 X 连锁显性疾病，由 PORCN 基因的无义突变和缺失引起，该基因编码一种跨膜内质网蛋白，是 Wingless 信号所必需的。主要症状包括线性萎缩性皮肤缺损、骨骼畸形，且在许多情况下伴有智力迟钝。条纹状骨硬化是一个几乎恒定的特征。大约 90%的患者为女性。已有少数父传女和一些散发性男性病例的报道，推测是由于体细胞嵌合所致。
本研究旨在证明 PORCN 突变存在于一名男性患者的体细胞嵌合体中。
我们对一名患有 FDH 症状的男孩的不同组织进行了 PORCN 基因测序。
我们证明了 PORCN 基因的一个新缺失存在于合子后嵌合体中。
一个新的 PORCN 缺失，存在于合子后嵌合体中，导致一名男性患者发生局限性皮肤发育不良。
