Q289P Mutation in FGFR2 Gene Causes Saethre-Chotzen Syndrome: Some Considerations About Familial Heterogeneity

Objective To describe the first report on a three-generation family presenting typical features of Saethre-Chotzen syndrome, in which the Q289P mutation in the FGFR2 gene was detected. Design Dysmorphological evaluation was performed by a clinical geneticist. Direct sequencing of the polymerase chai...

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Bibliographic Details
Published in:The Cleft palate-craniofacial journal 2006-03, Vol.43 (2), p.142-147
Main Authors: de Freitas, Érika Cristina Lopes Burrone, Nascimento, Sandra Regina Dantas, de Mello, Maricilda Palandi, Gil-da-Silva-Lopes, Vera Lúcia
Format: Article
Language:English
Subjects:
Acrocephalosyndactylia - genetics
Algorithms
Biological and medical sciences
Birth defects
Craniosynostoses - genetics
Dentistry
Diseases of the osteoarticular system
Enzymes
Exons - genetics
Female
Fibroblasts
Genetic Heterogeneity
Growth factors
Humans
Male
Malformations and congenital and or hereditary diseases involving bones. Joint deformations
Medical sciences
Mutation
Mutation - genetics
Nuclear Proteins - genetics
Otorhinolaryngology. Stomatology
Polymerase Chain Reaction
Receptor, Fibroblast Growth Factor, Type 2 - genetics
Twist-Related Protein 1 - genetics
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Summary:Objective To describe the first report on a three-generation family presenting typical features of Saethre-Chotzen syndrome, in which the Q289P mutation in the FGFR2 gene was detected. Design Dysmorphological evaluation was performed by a clinical geneticist. Direct sequencing of the polymerase chain reaction-amplified coding region of TWIST and screening for the P250R mutation in the FGFR3 gene were performed. Exons IIIa and IIIc of FGFR2 were sequenced also. The mutation was confirmed by both restriction-enzyme digestion and allelic-specific polymerase chain reaction. Results Neither TWIST gene analysis nor analysis of the P250R mutation on gene FGFR3 showed mutation within the coding sequence. A nucleotide change from CAG to CCG in exon IIIa of the FGFR2 gene that caused a Q289P mutation was detected, although exon IIIc in the propositus was normal. These same results were detected in his mother, but no other members of the kindred presented clinical features consistent with Saethre-Chotzen syndrome. Conclusions This mutation was previously reported in individuals with Crouzon and Jackson-Weiss syndromes. The FGFR2 mutation in the family with Saethre-Chotzen syndrome herein reported reinforces the idea of an interaction among TWIST and FGFR genes during development. Absence of the Q289P mutation in some affected individuals in this family is discussed.
ISSN:1055-6656
1545-1569
DOI:10.1597/04-155.1