Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome

Article Abstract:

A novel Bardet-Biedl syndrome (BBS) gene BBS12 was identified by a combination of single-nucleotide polymorphism array homozygosity mapping with in silico analysis. The identification of BBS12, mutated in 5% of families with BBS, allowed the individualization of a novel branch of vertebrate-specific chaperonin-related proteins that account for one-third of the mutational load in patients with BBS.

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Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families

Article Abstract:

The gene HOXD13 plays a significant role in human autopod development. Mutations involving intragenic deletions in HOXD13 have been linked to instances of synpolydactyly (SPD), or cojoined fingers and toes with digit duplication in the cojoined areas. The mutations originate with different-sized amino-terminal polyalanine tract expansions, implicating further research.

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Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4

Article Abstract:

Heterozygous deletions are searched using semiquantitative fluorescent multiplex PCR (QMF-PCR) and characterized in patients of Waardenburg syndrome Types 2 and 4. Genes removed by deletions showed neurological phenotypes.

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