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.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
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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.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
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- Abstracts: A comprehensive screen for TWIST (ital) mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7-21.1
- Abstracts: Identification of cryptic rearrangements in patients with 18q- deletion syndrome. Evidence for a novel osteosarcoma tumor-suppressor gene in the chromosome 18 region genetically linked with Paget disease of bone
- Abstracts: A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 (ital) gene
- Abstracts: Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 (ital) mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling
- Abstracts: Using neural networks as an aid in the determination of disease status: comparison of clinical diagnosis to neural-network predictions in a pedigree with autosomal dominant limb-girdle muscular dystrophy