title: [Nevoid basal cell carcinoma syndrome with corpus callosum agenesis, PTCH1 mutation and absence of basal cell carcinoma].
abstract: Nevoid Basal Cell Carcinoma Syndrome (NBCCS) or Gorlin-Goltz syndrome is a rare autosomal dominant disorder, mainly due to PTCH1 gene mutations, that comprises a broad spectrum of clinical manifestations. The presence of multiple basal cell carcinomas (BCCs) is a cardinal sign in NBCCS, therefore cases in which BCCs are absent entails a delay in the diagnosis.We present a 14 years old boy with a clinical diagnosis of NBCCS by the presence of odontogenic cysts, hypertelorism, macrocephaly, and corpus callosum agenesia, but with absence of skin lesions. His 43 years old mother has NBCCS diagnosis and no history of BCCs. For a deeper study, PTCH1 mutation screening from peripheral blood samples were performed by both bidirectional sequencing and multiplex ligation dependent probe amplification (MLPA) techniques. The proband and his mother carry 25 pb duplication in exon 10 (c.1375dupl25bp) that causes a reading frameshift with a premature stop codon. Bioinformatics analysis predicted that this mutation results in a truncated protein shorter than normal. Our results suggest that complete clinical and genealogical studies accompanied by genetic analysis are essential in the early detection of the NBCCS cases such the one presented here.
authors.affiliation: Departamento de Dermatología, Hospital Eva Perón, Gral. San Martín, Argentina. E-mail: luismazzu@gmail.com.
authors.forename: Luis D
authors.initials: LD
authors.lastname: Mazzuoccolo
authors.forename: María Florencia
authors.initials: MF
authors.lastname: Martínez
authors.forename: Carolina
authors.initials: C
authors.lastname: Muchnik
authors.forename: Pablo J
authors.initials: PJ
authors.lastname: Azurmendi
authors.forename: Fernando
authors.initials: F
authors.lastname: Stengel
mesh_terms: D000293:Adolescent; D061085:Agenesis of Corpus Callosum / Q000000981:diagnostic imaging*; D001478:Basal Cell Nevus Syndrome / Q000235:genetics*; D002280:Basal Cell Carcinoma / Q000175:diagnosis; D055088:Early Detection of Cancer; D006801:Humans; D008297:Male; D060885:Multiplex Polymerase Chain Reaction; D009154:Mutation; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D010375:Pedigree; D011859:Radiography; D011956:Receptors, Cell Surface / Q000097:blood / Q000235:genetics*
chemical_list: C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface
keywords: Gorlin-Goltz syndrome; PTCH1 gene; corpus callosum agenesia; nevoid basal cell carcinoma syndrome