Parental origin of mutations in sporadic cases of Treacher Collins syndrome

Alessandra Splendore; Ethylin Wang Jabs; Têmis Maria Félix; Maria Rita Passos-Bueno

doi:10.1038/sj.ejhg.5201029

Parental origin of mutations in sporadic cases of Treacher Collins syndrome

Alessandra Splendore, Ethylin Wang Jabs, Têmis Maria Félix, Maria Rita Passos-Bueno

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34 Scopus citations

Abstract

In some autosomal dominant conditions, there is a correlation between new mutations and paternal age, with new mutations arising almost exclusively in the male germ line. To test this hypothesis in Treacher Collins syndrome, we analyzed 22 sporadic cases, determining the parental origin of the pathogenic mutation in 10 informative families. Mutations were found to be of both paternal and maternal origin, without a detectable parental age effect, confirming that a paternal age effect is not universal to all autosomal dominant disorders. A discussion on the parental origin of mutations and paternal age effect in other diseases is included.

Original language	English
Pages (from-to)	718-722
Number of pages	5
Journal	European Journal of Human Genetics
Volume	11
Issue number	9
DOIs	https://doi.org/10.1038/sj.ejhg.5201029
State	Published - 1 Sep 2003
Externally published	Yes

Keywords

Parental age
Sporadic mutation
TCOF1
Treacher Collins syndrome

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10.1038/sj.ejhg.5201029

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title = "Parental origin of mutations in sporadic cases of Treacher Collins syndrome",

abstract = "In some autosomal dominant conditions, there is a correlation between new mutations and paternal age, with new mutations arising almost exclusively in the male germ line. To test this hypothesis in Treacher Collins syndrome, we analyzed 22 sporadic cases, determining the parental origin of the pathogenic mutation in 10 informative families. Mutations were found to be of both paternal and maternal origin, without a detectable parental age effect, confirming that a paternal age effect is not universal to all autosomal dominant disorders. A discussion on the parental origin of mutations and paternal age effect in other diseases is included.",

keywords = "Parental age, Sporadic mutation, TCOF1, Treacher Collins syndrome",

author = "Alessandra Splendore and Jabs, {Ethylin Wang} and F{\'e}lix, {T{\^e}mis Maria} and Passos-Bueno, {Maria Rita}",

note = "Funding Information: The authors thank the TCS families for their collaboration to this study and Drs S{\'e}rgio Matioli and Rivka Glaser for valuable help. The financial support of FAPESP, CNPq and Pronex is also gratefully acknowledged. MRPB is supported in part by an International Research Scholars grant from the Howard Hughes Medical Institute. This work was supported in part by NIH P60 DE13078, NIH HD24061 and NIH RR00052 (EWJ).",

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doi = "10.1038/sj.ejhg.5201029",

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T1 - Parental origin of mutations in sporadic cases of Treacher Collins syndrome

AU - Splendore, Alessandra

AU - Jabs, Ethylin Wang

AU - Félix, Têmis Maria

AU - Passos-Bueno, Maria Rita

N1 - Funding Information: The authors thank the TCS families for their collaboration to this study and Drs Sérgio Matioli and Rivka Glaser for valuable help. The financial support of FAPESP, CNPq and Pronex is also gratefully acknowledged. MRPB is supported in part by an International Research Scholars grant from the Howard Hughes Medical Institute. This work was supported in part by NIH P60 DE13078, NIH HD24061 and NIH RR00052 (EWJ).

PY - 2003/9/1

Y1 - 2003/9/1

N2 - In some autosomal dominant conditions, there is a correlation between new mutations and paternal age, with new mutations arising almost exclusively in the male germ line. To test this hypothesis in Treacher Collins syndrome, we analyzed 22 sporadic cases, determining the parental origin of the pathogenic mutation in 10 informative families. Mutations were found to be of both paternal and maternal origin, without a detectable parental age effect, confirming that a paternal age effect is not universal to all autosomal dominant disorders. A discussion on the parental origin of mutations and paternal age effect in other diseases is included.

AB - In some autosomal dominant conditions, there is a correlation between new mutations and paternal age, with new mutations arising almost exclusively in the male germ line. To test this hypothesis in Treacher Collins syndrome, we analyzed 22 sporadic cases, determining the parental origin of the pathogenic mutation in 10 informative families. Mutations were found to be of both paternal and maternal origin, without a detectable parental age effect, confirming that a paternal age effect is not universal to all autosomal dominant disorders. A discussion on the parental origin of mutations and paternal age effect in other diseases is included.

KW - Parental age

KW - Sporadic mutation

KW - TCOF1

KW - Treacher Collins syndrome

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JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 9

ER -

Parental origin of mutations in sporadic cases of Treacher Collins syndrome

Abstract

Keywords

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