A WNT4 mutation associated with mullerian-duct regression and virilization in a 46, XX woman

Article Abstract:

An 18-year-old woman presented with primary amenorrhea and an absence of mullerian-derived structures, unilateral renal agenesis, and clinical signs of androgen excess - a phenotype resembling the Mayer-Rokitansky-Kuster-Hauser syndrome and remarkably similar to that of female Wnt4-knockout mice. The loss-of -function mutation identified in the WNT4 gene appears to cause development abnormalities in human and indicates that WNT4 is a major player in the development and maintenance of the female phenotype in women.

Health aspects, Women, Renal agents

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Mutations in VANGL1 associated with neural-tube defects

Article Abstract:

A study identified three mutations in the VANGL1 gene in patients with familial types (V239I and R274Q) and a sporadic type (M328T) of the disease, as well as a spontaneous mutation (V239I) appearing in a familial setting. Results demonstrate that, in a protein-protein interaction assay, V239I abolished interaction of VANGL1 protein with its binding partners, disheveled-1, -2, and -3, which implicate VANGL1 as a risk factor in human neural-tube defects.

United States, Risk factors, Genetic aspects, Neural tube, Neural tube defects

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Intermediate filament proteins and their associated diseases

Article Abstract:

All intermediate filament proteins have a prototypical structure consisting of a coiled-coil, alpha-helix rod domain that is interrupted by linkers and flanked by N-terminal head and C-terminal tail domains. The human genome contains at least 65 functional genes encoding intermediate filament proteins, and has more than 30 diseases related to mutations in these genes.

United Kingdom, Influence, Human genome, Intermediate filament proteins

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