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Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders.
Hum Genet. 1997 Nov; 101(1):47-50.HG

Abstract

Jackson-Weiss syndrome is a rare skeletal disorder characterized by craniosynostosis associated with foot malformations. This condition is inherited as an autosomal dominant trait with complete penetrance and wide phenotypic heterogeneity. Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been recently identified as causes of this syndrome and of at least four other craniosynostotic disorders, namely the Apert, Beare-Stevenson cutis gyrata, Crouzon and Pfeiffer syndromes. We report two novel FGFR2 missense mutations associated with phenotypes consistent with Jackson-Weiss syndrome. Both nucleotide changes predict a serine for cysteine-342 substitution in the second half of the third immunoglobulin-like domain. The replacement of Cys342 with arginine has previously been reported in one of the three Jackson-Weiss cases investigated. Interestingly, both Cys342Ser and Cys342Arg substitutions have been found to be associated with the Crouzon and Pfeiffer phenotypes; a phenotypic heterogeneity, Crouzon vs Jackson-Weiss clinical features, has been also observed for Gln289Pro and Ala344Gly amino-acid changes. This finding indicates the genetic homogeneity of the "heterogeneous" Jackson-Weiss phenotype and a common molecular basis for these apparently "clinically distinct" craniosynostotic disorders.

Authors+Show Affiliations

Laboratorio di Biologia Cellulare, Istituto Superiore di Sanità, Rome, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

9385368

Citation

Tartaglia, M, et al. "Jackson-Weiss Syndrome: Identification of Two Novel FGFR2 Missense Mutations Shared With Crouzon and Pfeiffer Craniosynostotic Disorders." Human Genetics, vol. 101, no. 1, 1997, pp. 47-50.
Tartaglia M, Di Rocco C, Lajeunie E, et al. Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders. Hum Genet. 1997;101(1):47-50.
Tartaglia, M., Di Rocco, C., Lajeunie, E., Valeri, S., Velardi, F., & Battaglia, P. A. (1997). Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders. Human Genetics, 101(1), 47-50.
Tartaglia M, et al. Jackson-Weiss Syndrome: Identification of Two Novel FGFR2 Missense Mutations Shared With Crouzon and Pfeiffer Craniosynostotic Disorders. Hum Genet. 1997;101(1):47-50. PubMed PMID: 9385368.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders. AU - Tartaglia,M, AU - Di Rocco,C, AU - Lajeunie,E, AU - Valeri,S, AU - Velardi,F, AU - Battaglia,P A, PY - 1998/1/7/pubmed PY - 1998/1/7/medline PY - 1998/1/7/entrez SP - 47 EP - 50 JF - Human genetics JO - Hum Genet VL - 101 IS - 1 N2 - Jackson-Weiss syndrome is a rare skeletal disorder characterized by craniosynostosis associated with foot malformations. This condition is inherited as an autosomal dominant trait with complete penetrance and wide phenotypic heterogeneity. Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been recently identified as causes of this syndrome and of at least four other craniosynostotic disorders, namely the Apert, Beare-Stevenson cutis gyrata, Crouzon and Pfeiffer syndromes. We report two novel FGFR2 missense mutations associated with phenotypes consistent with Jackson-Weiss syndrome. Both nucleotide changes predict a serine for cysteine-342 substitution in the second half of the third immunoglobulin-like domain. The replacement of Cys342 with arginine has previously been reported in one of the three Jackson-Weiss cases investigated. Interestingly, both Cys342Ser and Cys342Arg substitutions have been found to be associated with the Crouzon and Pfeiffer phenotypes; a phenotypic heterogeneity, Crouzon vs Jackson-Weiss clinical features, has been also observed for Gln289Pro and Ala344Gly amino-acid changes. This finding indicates the genetic homogeneity of the "heterogeneous" Jackson-Weiss phenotype and a common molecular basis for these apparently "clinically distinct" craniosynostotic disorders. SN - 0340-6717 UR - https://www.unboundmedicine.com/medline/citation/9385368/Jackson_Weiss_syndrome:_identification_of_two_novel_FGFR2_missense_mutations_shared_with_Crouzon_and_Pfeiffer_craniosynostotic_disorders_ L2 - https://dx.doi.org/10.1007/s004390050584 DB - PRIME DP - Unbound Medicine ER -