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A gene for Holt–Oram syndrome maps to the distal long arm of chromosome 12


Bonnet, Damien; Pelet, Anna; Legeai-Mallet, Laurence; Sidi, Daniel; Mathieu-Dramard, Michèle; Parent, Philippe; Plauchu, Henri; Serville, Françoise; Schinzel, Albert; Weissenbach, Jean; Kachaner, Jean; Munnich, Arnold; Lyonnet, Stanislas (1994). A gene for Holt–Oram syndrome maps to the distal long arm of chromosome 12. Nature Genetics, 6(4):405-408.

Abstract

Holt–Oram syndrome (HOS) is an autosomal dominant condition of unknown origin characterized by congenital septal heart defects with associated malformations of the upper limbs (radial ray). Here, we report on the mapping of a gene causing HOS to the distal long arm of chromosome 12 (12q21–qter) by linkage analysis in nine informative families (Zmax=6.81 at θ=0 at the D12S354 locus). Also, multipoint linkage analysis places the HOS gene within the genetic interval between D12S84 and D12S79 (multipoint lod–score in log base 10=8.10). The mapping of a gene for HOS is, to our knowledge, the first chromosomal localization of a gene responsible for congenital septal heart defect in human. The characterization of the HOS gene will hopefully shed light on the molecular mechanisms that govern heart septation in the early stages of embryogenesis.

Abstract

Holt–Oram syndrome (HOS) is an autosomal dominant condition of unknown origin characterized by congenital septal heart defects with associated malformations of the upper limbs (radial ray). Here, we report on the mapping of a gene causing HOS to the distal long arm of chromosome 12 (12q21–qter) by linkage analysis in nine informative families (Zmax=6.81 at θ=0 at the D12S354 locus). Also, multipoint linkage analysis places the HOS gene within the genetic interval between D12S84 and D12S79 (multipoint lod–score in log base 10=8.10). The mapping of a gene for HOS is, to our knowledge, the first chromosomal localization of a gene responsible for congenital septal heart defect in human. The characterization of the HOS gene will hopefully shed light on the molecular mechanisms that govern heart septation in the early stages of embryogenesis.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:610 Medicine & health
570 Life sciences; biology
Scopus Subject Areas:Life Sciences > Genetics
Uncontrolled Keywords:Genetics, Genetics (clinical)
Language:English
Date:1 April 1994
Deposited On:24 Oct 2023 15:59
Last Modified:29 Apr 2024 01:40
Publisher:Nature Publishing Group
ISSN:1061-4036
OA Status:Closed
Publisher DOI:https://doi.org/10.1038/ng0494-405
PubMed ID:8054983