A novel germline mutation in a patient with nevoid basal cell carcinoma syndrome showing cystic lesion in the lung

• Published in: Human genome variation Vol. 2; no. 1; p. 15014
• Main Authors: Miyata, Ryo, Kurosawa, Manabu, Sato, Masaaki, Kono, Tomoya, Takubo, Yasutaka, Okai, Shinsaku, Yamada, Keisuke, Shinkura, Reiko, Date, Hiroshi, Matsuda, Fumihiko
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 11-06-2015; Springer Nature B.V; Nature Publishing Group
• Subjects: 631/208/2489/144; 631/208/737; Biomedical and Life Sciences; Biomedicine; Data Report; Gene Expression; Gene Function; Gene Therapy; Human Genetics; Molecular Medicine
• ISSN: 2054-345X; 2054-345X
• DOI: 10.1038/hgv.2015.14

Nevoid basal cell carcinoma syndrome (NBCCS) manifests multiple defects involving the skin, endocrine and nervous systems, eyes and bones. Mutations in the patched homologue 1 (
PTCH1
) gene are the underlying causes of NBCCS, leading to aberrant cell proliferation through constitutive activation of the hedgehog signaling pathway. We identified a novel frameshift mutation (c.1207dupT) of
PTCH1
in a NBCCS patient, which might explain multiple cystic lesions and neoplastic growth in the patient.