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PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly‐like features and normal MRI
Author(s) -
Ribeiro Lucilene Arilho,
Murray Jeffrey C.,
RichieriCosta Antonio
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31369
Subject(s) - holoprosencephaly , microphthalmia , macrocephaly , anatomy , hypertelorism , medicine , proband , mutation , biology , pathology , genetics , pregnancy , fetus , gene
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. © 2006 Wiley‐Liss, Inc.