De novo Alu-element insertions in FGFR2 (ital) identify a distinct pathological basis for Apert syndrome

Article Abstract:

Apert syndrome, a craniosynostosis syndrome resulting from allelic mutations of fibroblast growth-factor receptor 2 ('FGFR2), has a distinct pathological basis. There are de novo Alu-element insertions in FGFR2. All but 2 of 260 unrelated patients analyzed have missense mutations in exon 7. They affect a dipeptide in the linker region between the second and third immunoglobulin-like domains. The other two have FGFR2 mutations distinct in position and nature. In each there is an Alu-element insertion of about 360 bp, one just upstream from exon 9 and the other in exon 9. They arose de novo on paternal chromosomes in both cases. There is genetic evidence of signaling through KGFR causing syndactyly in the syndrome.

United Kingdom, Usage, Birth defects, Chromosome mapping, Mutation (Biology), Mutation, Genetic disorders

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The origin of EFNB1 mutations in craniofrontonasal syndrome: Frequent somatic mosaicism and explanation of the paucity of carrier males

Article Abstract:

The discovery of causative mutations in the EFNB1 gene is exploited, which encodes ephrin-B1, to survey the molecular alterations in 59 families. Somatic mosaicism was demonstrated in 6 of 53 informative families, and of 17 germline mutations in individuals for whom the parental origin of mutation could be demonstrated, 15 arose from the father.

Health aspects, Mosaicism

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RAB23 mutations in Carpenter syndrome imply an unexpected role for Hedgehog signaling in cranial-suture development and obesity

Article Abstract:

RAB23 mutations in Carpenter syndrome were studied. Homozygosity mapping was used and linkages to chromosome 6p12.1-q12 and five different mutations were identified in RAB23.

Cellular signal transduction, Pleiotropy, Craniofacial abnormalities, Report

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