Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele

P Rump; T G W Letteboer; J J P Gille; M J L Torringa; W Baerts; J P J van Gestel; J B G M Verheij; A J van Essen

doi:10.1002/ajmg.a.31084

Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele

P Rump
, T G W Letteboer
, J J P Gille
, M J L Torringa
, W Baerts
, J P J van Gestel
, J B G M Verheij
, A J van Essen

Department of Clinical Genetics, University Medical Center Groningen, University of Groningen, The Netherlands. [email protected]

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

Abstract

We describe a unique case of achondroplasia with associated complications, including severe respiratory problems. Molecular analysis of the fibroblast growth factor receptor type 3 (FGFR3) gene in this patient showed the common p.G380R mutation and a second novel p.L377R mutation. An allele-specific PCR demonstrated that these mutations were on the same allele (cis). Both mutations were not present in the parents and appear to have occurred de novo. To our knowledge, this is the first report in the literature on an achondroplasia patient with two FGFR3 mutations on the same allele.

Original language	English
Pages (from-to)	284-90
Number of pages	7
Journal	American journal of medical genetics. Part A
Volume	140
Issue number	3
DOIs	https://doi.org/10.1002/ajmg.a.31084
Publication status	Published - 1 Feb 2006

Keywords

Achondroplasia/complications
Alleles
Base Sequence
DNA Mutational Analysis
Fatal Outcome
Humans
Infant
Infant, Newborn
Male
Mutation
Mutation, Missense
Receptor, Fibroblast Growth Factor, Type 3/genetics
Respiratory Distress Syndrome, Newborn/complications

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10.1002/ajmg.a.31084

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title = "Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele",

abstract = "We describe a unique case of achondroplasia with associated complications, including severe respiratory problems. Molecular analysis of the fibroblast growth factor receptor type 3 (FGFR3) gene in this patient showed the common p.G380R mutation and a second novel p.L377R mutation. An allele-specific PCR demonstrated that these mutations were on the same allele (cis). Both mutations were not present in the parents and appear to have occurred de novo. To our knowledge, this is the first report in the literature on an achondroplasia patient with two FGFR3 mutations on the same allele.",

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AU - Rump, P

AU - Letteboer, T G W

AU - Gille, J J P

AU - Torringa, M J L

AU - Baerts, W

AU - van Gestel, J P J

AU - Verheij, J B G M

AU - van Essen, A J

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N2 - We describe a unique case of achondroplasia with associated complications, including severe respiratory problems. Molecular analysis of the fibroblast growth factor receptor type 3 (FGFR3) gene in this patient showed the common p.G380R mutation and a second novel p.L377R mutation. An allele-specific PCR demonstrated that these mutations were on the same allele (cis). Both mutations were not present in the parents and appear to have occurred de novo. To our knowledge, this is the first report in the literature on an achondroplasia patient with two FGFR3 mutations on the same allele.

AB - We describe a unique case of achondroplasia with associated complications, including severe respiratory problems. Molecular analysis of the fibroblast growth factor receptor type 3 (FGFR3) gene in this patient showed the common p.G380R mutation and a second novel p.L377R mutation. An allele-specific PCR demonstrated that these mutations were on the same allele (cis). Both mutations were not present in the parents and appear to have occurred de novo. To our knowledge, this is the first report in the literature on an achondroplasia patient with two FGFR3 mutations on the same allele.

KW - Achondroplasia/complications

KW - Alleles

KW - Base Sequence

KW - DNA Mutational Analysis

KW - Fatal Outcome

KW - Humans

KW - Infant

KW - Infant, Newborn

KW - Male

KW - Mutation

KW - Mutation, Missense

KW - Receptor, Fibroblast Growth Factor, Type 3/genetics

KW - Respiratory Distress Syndrome, Newborn/complications

U2 - 10.1002/ajmg.a.31084

DO - 10.1002/ajmg.a.31084

M3 - Article

SN - 1552-4825

VL - 140

SP - 284

EP - 290

JO - American journal of medical genetics. Part A

JF - American journal of medical genetics. Part A

IS - 3

ER -

Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele

Abstract

Keywords

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