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Title: A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome

Abstract

The underlying basis of many forms of syndromic craniosynostosis has been defined on a molecular level. However, many patients with familial or sporadic craniosynostosis do not have the classical findings of those craniosynostosis syndromes. Here we present 61 individuals from 20 unrelated families where coronal synostosis is due to an amino acid substitution (Pro250Arg) that results from a single point mutation in the fibroblast growth factor receptor 3 gene on chromosome 4p. In this instance, a new clinical syndrome is being defined on the basis of the molecular finding. In addition to the skull findings, some patients had abnormalities on radiographs of hands and feet, including thimble-like middle phalanges, coned epiphyses, and carpal and tarsal fusions. Brachydactyly was seen in some cases; none had clinically significant syndactyly or deviation of the great toe. Sensorineural hearing loss was present in some, and developmental delay was seen in a minority. While the radiological findings of hands and feet can be very helpful in diagnosing this syndrome, it is not in all cases clearly distinguishable on a clinical basis from other craniosynostosis syndromes. Therefore, this mutation should be tested for in patients with coronal synostosis. 54 refs., 4 figs., 2 tabs.

Authors:
; ;  [1]
  1. Univ. of Pennsylvania, Philadelphia, PA (United States); and others
Publication Date:
OSTI Identifier:
518539
Resource Type:
Journal Article
Journal Name:
American Journal of Human Genetics
Additional Journal Information:
Journal Volume: 60; Journal Issue: 3; Other Information: PBD: Mar 1997
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; PATIENTS; HEREDITARY DISEASES; PHENOTYPE; SKELETAL DISEASES; CONGENITAL MALFORMATIONS; SENSE ORGANS DISEASES; GROWTH FACTORS; GENE MUTATIONS; RECEPTORS; GENETIC MAPPING; HUMAN CHROMOSOMES; FIBROBLASTS; AMINO ACIDS; POLYMERASE CHAIN REACTION

Citation Formats

Muenke, M, Gripp, K W, and McDonald-McGinn, D M. A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. United States: N. p., 1997. Web.
Muenke, M, Gripp, K W, & McDonald-McGinn, D M. A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. United States.
Muenke, M, Gripp, K W, and McDonald-McGinn, D M. 1997. "A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome". United States.
@article{osti_518539,
title = {A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome},
author = {Muenke, M and Gripp, K W and McDonald-McGinn, D M},
abstractNote = {The underlying basis of many forms of syndromic craniosynostosis has been defined on a molecular level. However, many patients with familial or sporadic craniosynostosis do not have the classical findings of those craniosynostosis syndromes. Here we present 61 individuals from 20 unrelated families where coronal synostosis is due to an amino acid substitution (Pro250Arg) that results from a single point mutation in the fibroblast growth factor receptor 3 gene on chromosome 4p. In this instance, a new clinical syndrome is being defined on the basis of the molecular finding. In addition to the skull findings, some patients had abnormalities on radiographs of hands and feet, including thimble-like middle phalanges, coned epiphyses, and carpal and tarsal fusions. Brachydactyly was seen in some cases; none had clinically significant syndactyly or deviation of the great toe. Sensorineural hearing loss was present in some, and developmental delay was seen in a minority. While the radiological findings of hands and feet can be very helpful in diagnosing this syndrome, it is not in all cases clearly distinguishable on a clinical basis from other craniosynostosis syndromes. Therefore, this mutation should be tested for in patients with coronal synostosis. 54 refs., 4 figs., 2 tabs.},
doi = {},
url = {https://www.osti.gov/biblio/518539}, journal = {American Journal of Human Genetics},
number = 3,
volume = 60,
place = {United States},
year = {Sat Mar 01 00:00:00 EST 1997},
month = {Sat Mar 01 00:00:00 EST 1997}
}