WNT3 and Tetra-Amelia
- DOI:
- 10.1093/med/9780199934522.003.0038
Tetra-amelia is an extremely rare congenital disorder in which all four limbs are absent. In the cases reported so far, tetra-amelia occurred with combinations of craniofacial, urogenital, pulmonary, nervous system, and skeletal malformations. Tetra-amelia has been documented in only a few families where the trait follows an autosomal recessive mode of inheritance. The tetra-amelia disease locus was mapped to chromosome 17q21, and a causative mutation was identified in the WNT3 gene. WNT3, a human homologue of the Drosophila wingless gene, encodes a member of the wingless (WNT) family known to play key roles in many developmental processes. WNT3 functions as a limb-inducing gene in humans and is also required in several aspects of human embryonic development. The diagnosis of tetra-amelia is usually established prenatally based on typical findings upon ultrasonography.
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