The Folkhaelsan Department of Medical Genetics, Helsinki, Finland.
Department of Clinical Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Am J Med Genet A. 2021 Jun;185(6):1875-1882. doi: 10.1002/ajmg.a.62168. Epub 2021 Mar 17.
Trichothiodystrophy is a group of multisystem neuroectodermal disorders with dysplastic hair as the cardinal symptom. We describe three patients from two Finnish families in whom whole-exome sequencing revealed a novel homozygous variant, c.26del, p.(Pro9Glnfs*144) in the MPLKIP-gene, confirming the diagnosis of non-photosensitive trichothiodystrophy type 4 (TTD4). The variant was confirmed by Sanger sequencing and inherited from unaffected carrier parents. This report adds to the literature by expanding the genetic and phenotypic spectra of MPLKIP-related trichothiodystrophy. We describe dysmorphic features in the patients and provide a comparison of clinical characteristics in patients with TTD4 reported to date.
先天性毛发硫营养不良症是一组多系统神经外胚层发育障碍性疾病，以畸形毛发为主要特征。我们描述了来自两个芬兰家族的 3 名患者，他们的外显子组测序发现了 MPLKIP 基因中的一个新型纯合变异 c.26del，p.(Pro9Glnfs*144)，这证实了非光敏感型 4 型先天性毛发硫营养不良症（TTD4）的诊断。该变异通过 Sanger 测序得到确认，并遗传自无异常的携带父母。本报告通过扩展 MPLKIP 相关先天性毛发硫营养不良症的遗传和表型谱，增加了该领域的文献。我们描述了患者的畸形特征，并对迄今为止报道的 TTD4 患者的临床特征进行了比较。
