Mapping of three translocation breakpoints associated with orofacial clefting within 6p24 and identification of new transcripts within the region

S. J. Davies; C. Wise; B. Venkatesh; G. Mirza; A. Jefferson; E. V. Volpi; J. Ragoussis

doi:10.1159/000078008

Mapping of three translocation breakpoints associated with orofacial clefting within 6p24 and identification of new transcripts within the region

S. J. Davies, C. Wise, B. Venkatesh, G. Mirza, A. Jefferson, E. V. Volpi, J. Ragoussis

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Abstract

Orofacial clefting (OFC) is a common congenital malformation. Here we report the refinement of three translocation breakpoints of patients exhibiting OFC within the 6p24 region, and the isolation and characterisation of novel genes, one of which is directly disrupted by the translocation breakpoint of a patient. The gene has been characterized and orthologues identified in bovine, murine and pufferfish.

Original language	English (US)
Pages (from-to)	47-53
Number of pages	7
Journal	Cytogenetic and Genome Research
Volume	105
Issue number	1
DOIs	https://doi.org/10.1159/000078008
State	Published - Jul 7 2004

ASJC Scopus subject areas

Molecular Biology
Genetics
Genetics(clinical)

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abstract = "Orofacial clefting (OFC) is a common congenital malformation. Here we report the refinement of three translocation breakpoints of patients exhibiting OFC within the 6p24 region, and the isolation and characterisation of novel genes, one of which is directly disrupted by the translocation breakpoint of a patient. The gene has been characterized and orthologues identified in bovine, murine and pufferfish.",

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AU - Jefferson, A.

AU - Volpi, E. V.

AU - Ragoussis, J.

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AB - Orofacial clefting (OFC) is a common congenital malformation. Here we report the refinement of three translocation breakpoints of patients exhibiting OFC within the 6p24 region, and the isolation and characterisation of novel genes, one of which is directly disrupted by the translocation breakpoint of a patient. The gene has been characterized and orthologues identified in bovine, murine and pufferfish.

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Mapping of three translocation breakpoints associated with orofacial clefting within 6p24 and identification of new transcripts within the region

Abstract

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