Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.
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.
Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina.|Department of Ophthalmology, University of North Carolina School of Medicine, Chapel Hill, North Carolina.
Natario L
NL
Couser
Texas Tech Health Sciences Center, Paul L. Foster School of Medicine, El Paso, Texas.|Johns Hopkins University School of Medicine, Baltimore, Maryland.
Chetna K
CK
Pande
Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina.|Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin.
Christie M
CM
Turcott
Department of Pediatrics and Denver Genetic Laboratories, University of Colorado School of Medicine, Aurora, Colorado.
Elaine B
EB
Spector
Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina.|Department of Genetics, University of North Carolina School of Medicine, Chapel Hill, North Carolina.
Arthur S
AS
Aylsworth
Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina.|Department of Genetics, University of North Carolina School of Medicine, Chapel Hill, North Carolina.
Cynthia M
CM
Powell
D000052:Acanthosis Nigricans / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D000130:Achondroplasia / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D001842:Bone and Bones / Q000002:abnormalities* / Q000473:pathology; D002648:Child; D004252:DNA Mutational Analysis; D004392:Dwarfism / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D015870:Gene Expression; D006801:Humans; D017880:Limb Deformities, Congenital / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008141:Lordosis / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D010641:Phenotype; D017354:Point Mutation; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*
C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3
FGFR3; SADDAN; acanthosis nigricans; achondroplasia; hypochondroplasia; skeletal dysplasia