A gene for lymphedema-distichiasis maps to 16q24.3

Article Abstract:

A gene for lymphedema-distichiasis, a dominantly inherited syndrome with onset of lymphedema at of just after puberty, which has been mapped to 16q24.3 is discussed. Three families with LD have been studied, and possible candidate genes include that for the cell matrix-adhesion regulator, CMAR, that for the metalloprotease PRSM1, and that for N-proteinase for type 3 collagen. Distichiasis is the appearance of fine hairs arising inappropriately from meibomian gland openings on the inner eyelid.

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A new twist: some patients with Saethre-Chotzen syndrome have a microdeletion syndrome

Article Abstract:

The finding that a significant fraction of those who have Saethre-Chotzen syndrome, a craniosynostosis syndrome, have a microdeletion syndrome, deletions in chromosome 7p21.1 that take in the TWIST (ital) gene, is discussed. Significance is in the refining of molecular means of diagnosis of the syndrome and the explanation for some of the variability of phenotype that can make diagnosis difficult.

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The genetics of cataract: our vision becomes clearer

Article Abstract:

Genetic studies of congenital cataract have demonstrated the challenges that come out of genetic heterogeneity. After the CAE1 (ital) locus was confirmed, nine new cataract loci were described. Relating genetics and age-related cataract is yet another challenge, and finding the specific genes involved may be dependent on completing an expressed sequence map of the human genome.

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