Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other hand/foot anomalies maps to human chromosome 3q27

Article Abstract:

Limb mammary syndrome (LMS), mapped to human chromosome 3q27, is a newly described genetic disorder involving ectrodactyly, mammary hypoplasia, and other hand/foot anomalies. It overlaps with the ulnar mammary syndrome (UMS) and a clefting syndrome, but allelism with these has been excluded. A large Dutch family with the syndrome has been studied. No mutations were found in the SOX2 (ital) open reading frame, but the SOX2 (ital) gene at 3q27 seems like an excellent candidate: the corresponding protein simulates FGF4 (ital) expression and the protein is one that is important for signaling in limb development/outgrowth. .

United States, Netherlands, Germany, Usage, Abnormalities, Birth defects, Chromosome mapping, Genetic disorders, Extremities (Anatomy)

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Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome

Article Abstract:

The pathogenesis of multiple pterygium syndromes (MPSs) is elucidated by undertaking the genomewide linkage scan of a large consanguineous family and a locus is mapped to 2q36-37. The results have identified the germline-inactivating mutations in the embryonal acetylcholine receptor gamma subunit (CHRNG) in families with both lethal and nonlethal MPSs and they have extended the role of acetylcholine receptor dysfunction in human disease.

Science & research, Gene mutations, Gene mutation, Acetylcholine, Acetylcholine receptors, Genetic research, Pterygium

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