The spectrum of mutations in TBX3: genotype/phenotype relationship in ulnar-mammary syndrome

Article Abstract:

Mutations affecting the DNA-binding region of the T-box gene TBX3 have been associated with ulnar-mammary syndrome (UMS). In a study of 75 individuals with UMS from 10 families, the TBX3 mutations have been characterized, and half of the mutations are found downstream of the area where the T-box domain is encoded. No apparent phenotypic differences were observed between missense mutations and deletion or frameshifts.

DNA binding proteins, Extremities (Anatomy)

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The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36

Article Abstract:

The recessive gene causing Bjornstad syndrome, characterized by sensorneural hearing loss and pili torti or twisted hair, has been mapped to chromosome 2q34-36. A large family including eight affected members was studied, and the locus was narrowed to an interval of 3-cM between D2S1371 and D2S163. Genes encoding cytokeratins or intermediate filement-associated proteins are probably involved.

Abnormalities, Hair, Hearing loss

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Tbx5-dependent rheostatic control of cardiac gene expression and morphogenesis

Article Abstract:

Morphogenesis and its role in controlling inherited heart diseases in humans is examined.

United States, Science & research, Prevention, Heart diseases, Morphogenesis

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