St John's Institute of Dermatology, King's College London, London, UK.
Australas J Dermatol. 2011 Aug;52(3):224-6. doi: 10.1111/j.1440-0960.2011.00788.x. Epub 2011 Jun 29.
Schöpf-Schulz-Passarge syndrome (SSPS; MIM224750) is a rare autosomal recessive form of ectodermal dysplasia that was recently shown to result from mutations in the WNT10A gene. We now report a 59-year-old woman with SSPS in whom a homozygous nonsense mutation (p.Cys107X) in WNT10A was detected. Mutations in this gene may also underlie odonto-onycho-dermal dysplasia and other ectodermal dysplasia syndromes. To date, 16 different WNT10A mutations have been reported, although considerable clinical and molecular overlap exists. This report demonstrates the molecular basis of a further case of SSPS and highlights the clinical features of this unusual ectodermal dysplasia syndrome.
Schöpf-Schulz-Passarge 综合征（SSPS；MIM224750）是一种罕见的常染色体隐性形式的外胚层发育不良，最近被证明是由 WNT10A 基因突变引起的。我们现在报告了一例 59 岁的 SSPS 患者，其 WNT10A 基因中存在纯合无义突变（p.Cys107X）。该基因的突变也可能是牙-甲-齿-皮肤发育不良和其他外胚层发育不良综合征的基础。迄今为止，已经报道了 16 种不同的 WNT10A 突变，尽管存在相当大的临床和分子重叠。本报告证明了另一个 SSPS 病例的分子基础，并强调了这种不寻常的外胚层发育不良综合征的临床特征。
