Tags

Type your tag names separated by a space and hit enter

A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.
J Med Genet. 1996 Sep; 33(9):744-8.JM

Abstract

Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have previously been identified in Crouzon syndrome, an autosomal dominant condition involving premature fusion of the cranial sutures. Several different missense and other mutations have been identified in Crouzon syndrome patients, clustering around the third immunoglobulin-like domain. We report here the identification of a mutation in the transmembrane region of FGFR3, common to three unrelated patients with classical Crouzon syndrome and acanthosis nigricans, a dermatological condition associated with thickening and abnormal pigmentation of the skin. The mutation within the FGFR3 transcript was determined by direct sequencing as a specific gcg to gag transversion, resulting in an amino acid substitution ala391glu within the transmembrane region.

Authors+Show Affiliations

Mothercare Unit of Clinical Genetics and Fetal Medicine, Institute of Child Health, London, UK.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

8880573

Citation

Wilkes, D, et al. "A Recurrent Mutation, Ala391glu, in the Transmembrane Region of FGFR3 Causes Crouzon Syndrome and Acanthosis Nigricans." Journal of Medical Genetics, vol. 33, no. 9, 1996, pp. 744-8.
Wilkes D, Rutland P, Pulleyn LJ, et al. A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans. J Med Genet. 1996;33(9):744-8.
Wilkes, D., Rutland, P., Pulleyn, L. J., Reardon, W., Moss, C., Ellis, J. P., Winter, R. M., & Malcolm, S. (1996). A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans. Journal of Medical Genetics, 33(9), 744-8.
Wilkes D, et al. A Recurrent Mutation, Ala391glu, in the Transmembrane Region of FGFR3 Causes Crouzon Syndrome and Acanthosis Nigricans. J Med Genet. 1996;33(9):744-8. PubMed PMID: 8880573.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans. AU - Wilkes,D, AU - Rutland,P, AU - Pulleyn,L J, AU - Reardon,W, AU - Moss,C, AU - Ellis,J P, AU - Winter,R M, AU - Malcolm,S, PY - 1996/9/1/pubmed PY - 1996/9/1/medline PY - 1996/9/1/entrez SP - 744 EP - 8 JF - Journal of medical genetics JO - J. Med. Genet. VL - 33 IS - 9 N2 - Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have previously been identified in Crouzon syndrome, an autosomal dominant condition involving premature fusion of the cranial sutures. Several different missense and other mutations have been identified in Crouzon syndrome patients, clustering around the third immunoglobulin-like domain. We report here the identification of a mutation in the transmembrane region of FGFR3, common to three unrelated patients with classical Crouzon syndrome and acanthosis nigricans, a dermatological condition associated with thickening and abnormal pigmentation of the skin. The mutation within the FGFR3 transcript was determined by direct sequencing as a specific gcg to gag transversion, resulting in an amino acid substitution ala391glu within the transmembrane region. SN - 0022-2593 UR - https://wwww.unboundmedicine.com/medline/citation/8880573/A_recurrent_mutation_ala391glu_in_the_transmembrane_region_of_FGFR3_causes_Crouzon_syndrome_and_acanthosis_nigricans_ L2 - http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=8880573 DB - PRIME DP - Unbound Medicine ER -