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Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.
Am J Med Genet A. 2017 Apr; 173(4):1097-1101.AJ

Abstract

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.

Authors+Show Affiliations

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.Texas Tech Health Sciences Center, Paul L. Foster School of Medicine, El Paso, Texas. Johns Hopkins University School of Medicine, Baltimore, Maryland.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.Department of Pediatrics and Denver Genetic Laboratories, University of Colorado School of Medicine, Aurora, Colorado.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.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.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

28181399

Citation

Couser, Natario L., et al. "Mild Achondroplasia/hypochondroplasia With Acanthosis Nigricans, Normal Development, and a p.Ser348Cys FGFR3 Mutation." American Journal of Medical Genetics. Part A, vol. 173, no. 4, 2017, pp. 1097-1101.
Couser NL, Pande CK, Turcott CM, et al. Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation. Am J Med Genet A. 2017;173(4):1097-1101.
Couser, N. L., Pande, C. K., Turcott, C. M., Spector, E. B., Aylsworth, A. S., & Powell, C. M. (2017). Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation. American Journal of Medical Genetics. Part A, 173(4), 1097-1101. https://doi.org/10.1002/ajmg.a.38141
Couser NL, et al. Mild Achondroplasia/hypochondroplasia With Acanthosis Nigricans, Normal Development, and a p.Ser348Cys FGFR3 Mutation. Am J Med Genet A. 2017;173(4):1097-1101. PubMed PMID: 28181399.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation. AU - Couser,Natario L, AU - Pande,Chetna K, AU - Turcott,Christie M, AU - Spector,Elaine B, AU - Aylsworth,Arthur S, AU - Powell,Cynthia M, Y1 - 2017/02/09/ PY - 2016/11/10/received PY - 2016/12/12/revised PY - 2016/12/24/accepted PY - 2017/2/10/pubmed PY - 2017/10/31/medline PY - 2017/2/10/entrez KW - FGFR3 KW - SADDAN KW - acanthosis nigricans KW - achondroplasia KW - hypochondroplasia KW - skeletal dysplasia SP - 1097 EP - 1101 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 173 IS - 4 N2 - 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. SN - 1552-4833 UR - https://wwww.unboundmedicine.com/medline/citation/28181399/Mild_achondroplasia/hypochondroplasia_with_acanthosis_nigricans_normal_development_and_a_p_Ser348Cys_FGFR3_mutation_ L2 - https://doi.org/10.1002/ajmg.a.38141 DB - PRIME DP - Unbound Medicine ER -