Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation

• Published in: American journal of medical genetics. Part A Vol. 173; no. 4; pp. 1097 - 1101
• Main Authors: Couser, Natario L., Pande, Chetna K., Turcott, Christie M., Spector, Elaine B., Aylsworth, Arthur S., Powell, Cynthia M.
• Format: Journal Article
• Language: English
• Published: United States Wiley Subscription Services, Inc 01.04.2017
• Subjects: acanthosis nigricans; Acanthosis Nigricans - diagnosis; Acanthosis Nigricans - genetics; Acanthosis Nigricans - pathology; achondroplasia; Achondroplasia - diagnosis; Achondroplasia - genetics; Achondroplasia - pathology; Bone and Bones - abnormalities; Bone and Bones - pathology; Child; DNA Mutational Analysis; Dwarfism - diagnosis; Dwarfism - genetics; Dwarfism - pathology; FGFR3; Gene Expression; Humans; hypochondroplasia; Limb Deformities, Congenital - diagnosis; Limb Deformities, Congenital - genetics; Limb Deformities, Congenital - pathology; Lordosis - diagnosis; Lordosis - genetics; Lordosis - pathology; Male; Mutation; Phenotype; Point Mutation; Receptor, Fibroblast Growth Factor, Type 3 - genetics; SADDAN; skeletal dysplasia; acanthosis nigricans; achondroplasia; hypochondroplasia; FGFR3; SADDAN; skeletal dysplasia
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.38141

Pathogenic allelic variants in the fibroblast growth factor receptor 3 (FGFR3) gene have been associated with a number of phenotypes including achondroplasia, hypochondroplasia, thanatophoric dysplasia, Crouzon syndrome with acanthosis nigricans (Crouzonodermoskeletal syndrome), and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans). Crouzon syndrome with acanthosis nigricans is caused by the pathogenic variant c.1172C>A (p.Ala391Glu) in the FGFR3 gene. The p.Lys650Thr pathogenic variant in FGFR3 has been linked to acanthosis nigricans without significant craniofacial or skeletal abnormalities. Recently, an infant with achondroplasia and a novel p.Ser348Cys FGFR3 mutation was reported. We describe the clinical history of an 8‐year‐old child with a skeletal dysplasia in the achondroplasia‐hypochondroplasia spectrum, acanthosis nigricans, typical development, and the recently described p.Ser348Cys FGFR3 mutation.