A Novel PTCH1 Frameshift Mutation Leading to Nevoid Basal Cell Carcinoma Syndrome

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Durmaz C. D., Evans G., Smith M. J., Ertop P., Akay B. N., TUNCALI T.

CYTOGENETIC AND GENOME RESEARCH, cilt.154, sa.2, ss.57-61, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 154 Sayı: 2
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1159/000487747
  • Dergi Adı: CYTOGENETIC AND GENOME RESEARCH
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.57-61
  • Anahtar Kelimeler: Gorlin syndrome, Medulloblastoma, Nevoid basal cell carcinoma syndrome, PTCH1, SUFU, GORLIN SYNDROME, MEDULLOBLASTOMA
  • Ankara Üniversitesi Adresli: Evet

Özet

Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a rare multisystemic autosomal dominant disorder typically presenting with cutaneous basal cell carcinomas, multiple keratocysts, and skeletal anomalies. NBCCS is caused by heterozygous mutations in the PTCH1 gene in chromosome 9q22, in the PTCH2 gene in 1p34, or the SUFU gene in 10q24.32. Here, we report on an 18-month-old boy presenting with medulloblastoma, frontal bossing, and multiple skeletal anomalies and his father who has basal cell carcinomas, palmar pits, macrocephaly, bifid ribs, calcification of falx cerebri, and a history of surgery for odontogenic keratocyst. These clinical findings were compatible with the diagnosis of NBCCS, and a novel mutation, c.1249delC; p.Gln417Lysfs*15, was found in PTCH1 causing a premature stop codon. (C) 2018 S. Karger AG, Basel.