Contributions of PTCH gene variants to isolated cleft lip and palate.

ABSTRACT:

Objective

Mutations in patched (PTCH) cause the nevoid basal cell carcinoma syndrome (NBCCS), or Gorlin syndrome. Nevoid basal cell carcinoma syndrome may present with developmental anomalies, including rib and craniofacial abnormalities, and predisposes to several tumor types, including basal cell carcinoma and medulloblastoma. Cleft palate is found in 4% of individuals with nevoid basal cell carcinoma syndrome. Because there might be specific sequence alterations in PTCH that limit expression to orofacial clefting, a genetic study of PTCH was undertaken in cases with cleft lip and/or palate (CL/P) known not to have nevoid basal cell carcinoma syndrome.

Results

Seven new normal variants spread along the entire gene and three missense mutations were found among cases with cl

SUBMITTER: Mansilla MA 

PROVIDER: S-EPMC2151847 | biostudies-literature | 2006 Jan

REPOSITORIES: biostudies-literature