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Functional analysis of mutations in TGIF associated with holoprosencephaly MOLECULAR GENETICS AND METABOLISM El-Jaick, K. B., Powers, S. E., Bartholin, L., Myers, K. R., Hahn, J., Orioli, I. M., Ouspenskaia, M., Lacbawan, F., Roessler, E., Wotton, D., Muenke, M. 2007; 90 (1): 97-111

Abstract

Holoprosencephaly (HPE) is the most common structural malformation of the forebrain and face in humans. Our current understanding of the pathogenesis of HPE attempts to integrate genetic susceptibility, evidenced by mutations in the known HPE genes, with the epigenetic influence of environmental factors. Mutations or deletions of the human TGIF gene have been associated with HPE in multiple population cohorts. Here we examine the functional effects of all previously reported mutations, and describe four additional variants. Of the eleven sequence variations in TGIF, all but four can be demonstrated to be functionally abnormal. In contrast, no potentially pathogenic sequence alterations were detected in the related gene TGIF2. These results provide further evidence of a role for TGIF in HPE and demonstrate the importance of functional analysis of putative disease-associated alleles.

View details for DOI 10.1016/j.ymgme.2006.07.011

View details for Web of Science ID 000243476600016

View details for PubMedID 16962354

View details for PubMedCentralID PMC1820763