Clinical spectrum of fibroblast growth factor receptor mutations

M. R. Passos-Bueno; W. R. Wilcox; E. W. Jabs; A. L. Sertié; L. G. Alonso; H. Kitoh

doi:10.1002/(SICI)1098-1004(1999)14:2<115::AID-HUMU3>3.0.CO;2-2

Clinical spectrum of fibroblast growth factor receptor mutations

M. R. Passos-Bueno
, W. R. Wilcox
, E. W. Jabs
, A. L. Sertié
, L. G. Alonso
, H. Kitoh

Research output: Contribution to journal › Article › peer-review

263 Scopus citations

Abstract

During the last few years, it has been demonstrated that some syndromic craniosynostosis and short-limb dwarfism syndromes, a heterogeneous group comprising of 11 distinct clinical entities, are caused by mutations in one of three fibroblast growth factor receptor genes (FGFR1, FGFR2, and FGFR3). The present review list all mutations described to date in these three genes and the phenotypes associated with them. In addition, the tentative phenotype-genotype correlation is discussed, including the most suggested causative mechanisms for these conditions.

Original language	English
Pages (from-to)	115-125
Number of pages	11
Journal	Human Mutation
Volume	14
Issue number	2
DOIs	https://doi.org/10.1002/(SICI)1098-1004(1999)14:2<115::AID-HUMU3>3.0.CO;2-2
State	Published - 1999
Externally published	Yes

Keywords

Achondroplasia
Antley-Bixtley syndrome
Apert syndrome
Beare-Stevenson syndrome
Craniosynostosis
Crouzon syndrome
FGFR1
FGFR2
FGFR3
Hypochondroplasia
Jackson- Weiss syndrome
Pfeiffer syndrome
Platyspon dylic lethal skeletal dysplasia
Saethre-Chotzen syndrome
Thanatophoric dysplasia

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10.1002/(SICI)1098-1004(1999)14:2<115::AID-HUMU3>3.0.CO;2-2

Cite this

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title = "Clinical spectrum of fibroblast growth factor receptor mutations",

abstract = "During the last few years, it has been demonstrated that some syndromic craniosynostosis and short-limb dwarfism syndromes, a heterogeneous group comprising of 11 distinct clinical entities, are caused by mutations in one of three fibroblast growth factor receptor genes (FGFR1, FGFR2, and FGFR3). The present review list all mutations described to date in these three genes and the phenotypes associated with them. In addition, the tentative phenotype-genotype correlation is discussed, including the most suggested causative mechanisms for these conditions.",

keywords = "Achondroplasia, Antley-Bixtley syndrome, Apert syndrome, Beare-Stevenson syndrome, Craniosynostosis, Crouzon syndrome, FGFR1, FGFR2, FGFR3, Hypochondroplasia, Jackson- Weiss syndrome, Pfeiffer syndrome, Platyspon dylic lethal skeletal dysplasia, Saethre-Chotzen syndrome, Thanatophoric dysplasia",

author = "Passos-Bueno, \{M. R.\} and Wilcox, \{W. R.\} and Jabs, \{E. W.\} and Serti{\'e}, \{A. L.\} and Alonso, \{L. G.\} and H. Kitoh",

year = "1999",

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journal = "Human Mutation",

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T1 - Clinical spectrum of fibroblast growth factor receptor mutations

AU - Passos-Bueno, M. R.

AU - Wilcox, W. R.

AU - Jabs, E. W.

AU - Sertié, A. L.

AU - Alonso, L. G.

AU - Kitoh, H.

PY - 1999

Y1 - 1999

N2 - During the last few years, it has been demonstrated that some syndromic craniosynostosis and short-limb dwarfism syndromes, a heterogeneous group comprising of 11 distinct clinical entities, are caused by mutations in one of three fibroblast growth factor receptor genes (FGFR1, FGFR2, and FGFR3). The present review list all mutations described to date in these three genes and the phenotypes associated with them. In addition, the tentative phenotype-genotype correlation is discussed, including the most suggested causative mechanisms for these conditions.

AB - During the last few years, it has been demonstrated that some syndromic craniosynostosis and short-limb dwarfism syndromes, a heterogeneous group comprising of 11 distinct clinical entities, are caused by mutations in one of three fibroblast growth factor receptor genes (FGFR1, FGFR2, and FGFR3). The present review list all mutations described to date in these three genes and the phenotypes associated with them. In addition, the tentative phenotype-genotype correlation is discussed, including the most suggested causative mechanisms for these conditions.

KW - Achondroplasia

KW - Antley-Bixtley syndrome

KW - Apert syndrome

KW - Beare-Stevenson syndrome

KW - Craniosynostosis

KW - Crouzon syndrome

KW - FGFR1

KW - FGFR2

KW - FGFR3

KW - Hypochondroplasia

KW - Jackson- Weiss syndrome

KW - Pfeiffer syndrome

KW - Platyspon dylic lethal skeletal dysplasia

KW - Saethre-Chotzen syndrome

KW - Thanatophoric dysplasia

UR - https://www.scopus.com/pages/publications/0032774475

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M3 - Article

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AN - SCOPUS:0032774475

SN - 1059-7794

VL - 14

SP - 115

EP - 125

JO - Human Mutation

JF - Human Mutation

IS - 2

ER -

Clinical spectrum of fibroblast growth factor receptor mutations

Abstract

Keywords

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