Mashayekhi Parisa, Omrani Mir Davood, Tonekaboni Seyed Hasan, Dehghanifard Ali
Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.
Urogenital Stem Cell Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Hum Genome Var. 2023 Sep 26;10(1):26. doi: 10.1038/s41439-023-00254-9.
Basal cell nevus syndrome (BCNS), or Gorlin syndrome, is a rare autosomal dominant disorder caused by mutations in the tumor suppressor gene PTCH1 with complete penetrance and variable expressivity characterized by a broad spectrum of developmental anomalies and a predisposition to neoplasms. Herein, we report a novel de novo splice site mutation in the PTCH1 gene related to mild developmental delay and autistic traits in a 4-year-old male patient.
基底细胞痣综合征（BCNS），又称戈林综合征，是一种罕见的常染色体显性疾病，由肿瘤抑制基因PTCH1突变引起，具有完全外显率和可变表达性，其特征为广泛的发育异常和肿瘤易感性。在此，我们报告一名4岁男性患者中与轻度发育迟缓及自闭症特征相关的PTCH1基因新的从头剪接位点突变。
