PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI

Am J Med Genet A. 2006 Dec 1;140(23):2584-6. doi: 10.1002/ajmg.a.31369.

Abstract

We report five Brazilian probands with PATCHED (PTCH) mutations and highly variable phenotypes with holoprosencephaly in four cases and holoprosencephaly-like facial features with a normal MRI in a fifth case. Three of our mutations were novel: Ala443Gly, Val751Gly, and Val908Gly. Two patients had the same mutation (Val908Gly), but were phenotypically different: alobar holoprosencephaly, absent nasal septum, and midline cleft lip-palate in one case, and lobar holoprosencephaly, macrocephaly, hypertelorism, clefting of the nose, severe microphthalmia, and a single maxillary central incisor in the other. One of our patients had a Thr1052Met mutation, holoprosencephaly-like facial features, and a normal MRI. Ming et al. [(2002); Hum Genet 110:297-301] reported an identical mutation, but with alobar holoprosencephaly.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple
  • Brazil / ethnology
  • Cleft Lip / genetics
  • Holoprosencephaly / diagnosis
  • Holoprosencephaly / genetics*
  • Humans
  • Magnetic Resonance Imaging
  • Mutation*
  • Patched Receptors
  • Patched-1 Receptor
  • Phenotype
  • Receptors, Cell Surface / genetics*

Substances

  • PTCH1 protein, human
  • Patched Receptors
  • Patched-1 Receptor
  • Receptors, Cell Surface