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Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation
Author(s) -
Couser Natario L.,
Pande Chetna K.,
Turcott Christie M.,
Spector Elaine B.,
Aylsworth Arthur S.,
Powell Cynthia M.
Publication year - 2017
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38141
Subject(s) - achondroplasia , acanthosis nigricans , fibroblast growth factor receptor 3 , dwarfism , dysplasia , short stature , endocrinology , medicine , biology , genetics , fibroblast growth factor , gene , receptor , obesity , insulin resistance
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.