title: Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.
abstract: Hypochondroplasia (HCP) is an autosomal dominant skeletal dysplasia characterized by short extremities, short stature and lumbar lordosis, usually exhibiting a phenotype similar to but milder than achondroplasia (ACP). Fibroblast growth factor receptor 3 gene (FGFR3) mutations in the germline are well-known causes of skeletal syndromes. FGFR3 is a negative regulator of bone growth and all mutations in FGFR3 are gain-of-function mutations that lead to skeletal dysplasias. We report a child who presented with short stature, a relatively long trunk, short legs, short arm span, radiographic evidence of HCP and mild mental retardation. Genetic analysis revealed a heterozygous 1620C>G (Asn540Lys) mutation in FGFR3. To our knowledge, ours is the first case report of HCP with a heterozygous 1620C>G (Asn540Lys) mutation in Turkey.
authors.affiliation: Dr. Behçet Uz Children Disease and Surgery Training and Research Hospital, Department of Pediatric Endocrinology, İzmir, Turkey. drkorkmazanil@hotmail.com
authors.forename: Hüseyin Anıl
authors.initials: HA
authors.lastname: Korkmaz
authors.forename: Filiz
authors.initials: F
authors.lastname: Hazan
authors.forename: Ceyhun
authors.initials: C
authors.lastname: Dizdarer
authors.forename: Ajlan
authors.initials: A
authors.lastname: Tükün
mesh_terms: D019943:Amino Acid Substitution; D001842:Bone and Bones / Q000002:abnormalities / Q000378:metabolism; D002657:Child Development; D002675:Child, Preschool; D004392:Dwarfism / Q000235:genetics* / Q000378:metabolism; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics* / Q000378:metabolism; D008141:Lordosis / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics* / Q000378:metabolism
chemical_list: C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3