A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness

Article Abstract:

Charcot-Marie-Tooth (CMT) disease with deafness is associated with a unique G to C transversion in coding exon 3 at position 248 in the PMP22 gene, which encodes peripheral myelin protein 22. Genetic analysis was conducted with 70 members of a large family from central Illinois affected with autosomal dominant CMT with deafness, of which 31 are affected, 28 are unaffected and 11 are spouses.

Charcot-Marie-Tooth disease

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Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia

Article Abstract:

Study is conducted to demonstrate the three different homozygous mutations such as p.S156P, p.R104X and p.V206SfsX117 in the fibroblast growth factor 3 (FGF3) gene affected members of these families, cosegregating with the autosomal recessive transmission as a completely penetrant phenotype. Findings show the involvement of FGF3 mutations in a human malformation syndrome.

Turkey, Fibroblast growth factors

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Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19

Article Abstract:

The disorder characterized by ectrodactyly, cleft palate and urogenital defects (EEC) appears to be genetically heterogeneous. In one large Dutch family with EEC, a gene causing the disorder was localized to chromosome 19, between D19S894 and D19S416. However, a second extended family with EEC did not map to the same locus.

Abnormalities, Birth defects, Extremities (Anatomy)

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