A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene

Article Abstract:

A novel fibroblast growth factor receptor 3 (FGFR3) missense mutation has been identified in four unrelated patients with skeletal dysplasia with severity near that seen in thanatophoric dysplasia type I (TD1). The mutation is at the nucleotide beside the TD type II mutation. Three of the four have severe neurological problems and developed extensive areas of acanthosis nigricans in early childhood. They got past infancy with no prolonged life-support. The phenotype caused by the Lys650Met mutation is called 'severe achondroplasia with developmental delay and acanthosis nigricans' (SADDAN) because it is quite different from the phenotypes of other FGFR3 mutations that have been identified.

Developmental disabilities, Dysplasia, Acanthosis nigricans

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Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome

Article Abstract:

Sporadic achondroplasia is associated with mutations on the paternal chromosome in 40 cases, all those in which the parental origin could be determined. The mutation apparently occurs with advanced paternal age, and the mean paternal age was 35.86 years for the cases studied. The mutations G1138A and G1138C occur in the fibroblast growth factor receptor 3 gene, FGFR3. A predisposition for these mutations appears to be related to some factor affecting replication of DNA during spermatogenesis, but not during oogenesis.

Spermatogenesis, Fibroblast growth factors, Achondroplasia

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Mutation analysis of LMX1B (ital) gene in nail-patella syndrome patients

Article Abstract:

Nail-patella syndrome (NPS) patients, who suffer from onycho-osteodysplasia, an autosomal dominant, pleiotropic disorder, and mutation analysis of LMX1B (ital) gene in the patients, are discussed. Analysis found evidence of mutations in LMX1B (ital), a LIM-homeodomain gene, when a cohort of 41 NPS families was screened for mutations of that gene, and it seems NPS likely results from haploinsufficiency for LMX1B (ital).

United Kingdom, Finland, Canada, Israel, Germany, Usage, Chromosome mapping, Genetic disorders, Fingernails, Patella

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