Variable phenotypic manifestations of a K44N mutation in the TGIF gene

Abstract The etiologies and clinical spectra of HPE are extremely heterogeneous. Here, we report a Brazilian boy with lobar holoprosencephaly who was ascertained in a sample of 60 patients with HPE and HPE-like phenotypes and screened for molecular analysis of the major HPE causative genes: SHH , PT...

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Published inBrain & development (Tokyo. 1979) Vol. 30; no. 3; pp. 203 - 205
Main Authors Richieri-Costa, Antonio, Ribeiro, Lucilene Arilho
Format Journal Article
LanguageEnglish
Published Netherlands Elsevier B.V 01.03.2008
Subjects
Asparagine - genetics
Child
DNA Mutational Analysis
Holoprosencephaly - genetics
Homeodomain Proteins - genetics
HPE
HPE-like
Humans
Lobar HPE
Lysine - genetics
Male
Mutation
Neurology
Repressor Proteins - genetics
TGIF
HPE
HPE-like
TGIF
Lobar HPE
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Summary:Abstract The etiologies and clinical spectra of HPE are extremely heterogeneous. Here, we report a Brazilian boy with lobar holoprosencephaly who was ascertained in a sample of 60 patients with HPE and HPE-like phenotypes and screened for molecular analysis of the major HPE causative genes: SHH , PTCH , SIX3 , GLI2 , and TGIF . This boy presented a p.K44N (c.132G > T) mutation in exon 2 of the TGIF gene which was inherited from his phenotypically normal mother. This mutation leads to lysine to arginine amino acid change and is predicted to be a damaging mutation. Clinical aspects involving variable phenotypical manifestations in different mutations of TGIF are discussed.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
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ISSN:0387-7604
1872-7131
DOI:10.1016/j.braindev.2007.07.012