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.

Genetic aspects, Lymphedema, Eyelids

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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.

Diagnosis, Face, Facies (Medicine), Mental retardation, Genetic translation, Translation (Genetics), Skeleton, Craniofacial dysostosis, Linkage (Genetics)

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