Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2002-11-21

AUTHORS

Céline Aguilella, Christèle Dubourg, Jocelyne Attia-Sobol, Jacqueline Vigneron, Martine Blayau, Laurent Pasquier, Leila Lazaro, Sylvie Odent, Véronique David

ABSTRACT

. Holoprosencephaly (HPE) is the most common severe brain anomaly in humans, which results from incomplete cleavage of the forebrain during early embryogenesis. The aetiology of HPE is very heterogeneous. Among the genetic factors, TGIF (TG-interacting factor), which codes for a transcription factor modulating the signalling pathway of TGF-β, was previously implicated. We investigated 127 HPE probands by sequencing their TGIF gene and identified the first nonsense mutation reported so far and also a novel missense mutation, in two families that presented a large range of disease severity. The low number of mutations in TGIF suggests that this gene has no major contribution to the aetiology of HPE and our study confirms the wide clinical heterogeneity of the disease. More... »

PAGES

131-134

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00439-002-0862-8

DOI

http://dx.doi.org/10.1007/s00439-002-0862-8

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1075216129

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/12522553


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