A cohort of balanced reciprocal translocations associated with dyslexia: identification of two putative candidate genes at DYX1

Roberta Buonincontri; Iben Bache; Asli Silahtaroglu; Carsten Elbro; Anne-Mette Veber Nielsen; Reinhard Ullmann; Ger Arkesteijn; Niels Tommerup

doi:10.1007/s10519-010-9389-2

A cohort of balanced reciprocal translocations associated with dyslexia: identification of two putative candidate genes at DYX1

Roberta Buonincontri, Iben Bache, Asli Silahtaroglu, Carsten Elbro, Anne-Mette Veber Nielsen, Reinhard Ullmann, Ger Arkesteijn, Niels Tommerup

14 Citationer (Scopus)

Abstract

Dyslexia is one of the most common neurodevelopmental disorders where likely many genes are involved in the pathogenesis. So far six candidate dyslexia genes have been proposed, and two of these were identified by rare chromosomal translocations in affected individuals. By systematic re-examination of all translocation carriers in Denmark, we have identified 16 different translocations associated with dyslexia. In four families, where the translocation co-segregated with the phenotype, one of the breakpoints concurred (at the cytogenetic level) with either a known dyslexia linkage region--at 15q21 (DYX1), 2p13 (DYX3) and 1p36 (DYX8)--or an unpublished linkage region at 19q13. As a first exploitation of this unique cohort, we identify three novel candidate dyslexia genes, ZNF280D and TCF12 at 15q21, and PDE7B at 6q23.3, by molecular mapping of the familial translocation with the 15q21 breakpoint.

Originalsprog	Engelsk
Tidsskrift	Behavior Genetics
Vol/bind	41
Udgave nummer	1
Sider (fra-til)	125-33
Antal sider	9
ISSN	0001-8244
DOI	https://doi.org/10.1007/s10519-010-9389-2
Status	Udgivet - 1 jan. 2011

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10.1007/s10519-010-9389-2

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abstract = "Dyslexia is one of the most common neurodevelopmental disorders where likely many genes are involved in the pathogenesis. So far six candidate dyslexia genes have been proposed, and two of these were identified by rare chromosomal translocations in affected individuals. By systematic re-examination of all translocation carriers in Denmark, we have identified 16 different translocations associated with dyslexia. In four families, where the translocation co-segregated with the phenotype, one of the breakpoints concurred (at the cytogenetic level) with either a known dyslexia linkage region--at 15q21 (DYX1), 2p13 (DYX3) and 1p36 (DYX8)--or an unpublished linkage region at 19q13. As a first exploitation of this unique cohort, we identify three novel candidate dyslexia genes, ZNF280D and TCF12 at 15q21, and PDE7B at 6q23.3, by molecular mapping of the familial translocation with the 15q21 breakpoint.",

author = "Roberta Buonincontri and Iben Bache and Asli Silahtaroglu and Carsten Elbro and Nielsen, {Anne-Mette Veber} and Reinhard Ullmann and Ger Arkesteijn and Niels Tommerup",

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AU - Buonincontri, Roberta

AU - Bache, Iben

AU - Silahtaroglu, Asli

AU - Elbro, Carsten

AU - Nielsen, Anne-Mette Veber

AU - Ullmann, Reinhard

AU - Arkesteijn, Ger

AU - Tommerup, Niels

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N2 - Dyslexia is one of the most common neurodevelopmental disorders where likely many genes are involved in the pathogenesis. So far six candidate dyslexia genes have been proposed, and two of these were identified by rare chromosomal translocations in affected individuals. By systematic re-examination of all translocation carriers in Denmark, we have identified 16 different translocations associated with dyslexia. In four families, where the translocation co-segregated with the phenotype, one of the breakpoints concurred (at the cytogenetic level) with either a known dyslexia linkage region--at 15q21 (DYX1), 2p13 (DYX3) and 1p36 (DYX8)--or an unpublished linkage region at 19q13. As a first exploitation of this unique cohort, we identify three novel candidate dyslexia genes, ZNF280D and TCF12 at 15q21, and PDE7B at 6q23.3, by molecular mapping of the familial translocation with the 15q21 breakpoint.

AB - Dyslexia is one of the most common neurodevelopmental disorders where likely many genes are involved in the pathogenesis. So far six candidate dyslexia genes have been proposed, and two of these were identified by rare chromosomal translocations in affected individuals. By systematic re-examination of all translocation carriers in Denmark, we have identified 16 different translocations associated with dyslexia. In four families, where the translocation co-segregated with the phenotype, one of the breakpoints concurred (at the cytogenetic level) with either a known dyslexia linkage region--at 15q21 (DYX1), 2p13 (DYX3) and 1p36 (DYX8)--or an unpublished linkage region at 19q13. As a first exploitation of this unique cohort, we identify three novel candidate dyslexia genes, ZNF280D and TCF12 at 15q21, and PDE7B at 6q23.3, by molecular mapping of the familial translocation with the 15q21 breakpoint.

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DO - 10.1007/s10519-010-9389-2

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JO - Behavior Genetics

JF - Behavior Genetics

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A cohort of balanced reciprocal translocations associated with dyslexia: identification of two putative candidate genes at DYX1

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