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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
A Novel Homozygous Mutation in FGFR3 Causes Tall Stature, Severe Lateral Tibial Deviation, Scoliosis, Hearing Impairment, Camptodactyly, and Arachnodactyly
Human Mutation, Volume 35, No. 8, Year 2014
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Description
Most reported mutations in the FGFR3 gene are dominant activating mutations that cause a variety of short-limbed bone dysplasias including achondroplasia and syndromic craniosynostosis. We report the phenotype and underlying molecular abnormality in two brothers, born to first cousin parents. The clinical picture is characterized by tall stature and severe skeletal abnormalities leading to inability to walk, with camptodactyly, arachnodactyly, and scoliosis. Whole exome sequencing revealed a homozygous novel missense mutation in the FGFR3 gene in exon 12 (NM_000142.4:c.1637C>A: p.(Thr546Lys)). The variant is found in the kinase domain of the protein and is predicted to be pathogenic. It is located near a known hotspot for hypochondroplasia. This is the first report of a homozygous loss-of-function mutation in FGFR3 in human that results in a skeletal overgrowth syndrome. © 2014 WILEY PERIODICALS, INC.
Authors & Co-Authors
Makrythanasis, Periklis
Switzerland, Geneva
Université de Genève
Switzerland, Geneva
Hôpitaux Universitaires de Genève
Temtamy, Samia Ali Li
Egypt, Giza
National Research Centre
Aglan, Mona Sabry
Egypt, Giza
National Research Centre
Otaify, Ghada A.
Egypt, Giza
National Research Centre
Hamamy, Hanan Ali
Switzerland, Geneva
Université de Genève
Antonarakis, Stylianos E.
Switzerland, Geneva
Université de Genève
Switzerland, Geneva
Hôpitaux Universitaires de Genève
Statistics
Citations: 63
Authors: 6
Affiliations: 3
Identifiers
Doi:
10.1002/humu.22597
ISSN:
10597794
e-ISSN:
10981004
Research Areas
Cancer
Genetics And Genomics