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

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 theta = 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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    • Grapherence [↓5]

    Authors+Show Affiliations

    Bonnet D
    ,

    Département de Pédiatrie, INSERM U-393, Hôpital des Enfants-Malades, Paris, France.

    Pelet A
    ,
    Legeai-Mallet L
    ,
    Sidi D
    ,
    Mathieu M
    ,
    Parent P
    ,
    Plauchu H
    ,
    Serville F
    ,
    Schinzel A
    ,
    Weissenbach J

    Source

    Nature genetics 6:4 1994 Apr pg 405-8

    MeSH

    Abnormalities, Multiple
    Arm
    Chromosome Mapping
    Chromosomes, Human, Pair 12
    Genes, Dominant
    Genetic Linkage
    Hand Deformities, Congenital
    Heart Defects, Congenital
    Humans
    Pedigree
    Recombination, Genetic
    Syndrome

    Pub Type(s)

    Journal Article
    Research Support, Non-U.S. Gov't

    Language

    eng

    PubMed ID

    8054983

    Citation

    Bonnet, D, et al. "A Gene for Holt-Oram Syndrome Maps to the Distal Long Arm of Chromosome 12." Nature Genetics, vol. 6, no. 4, 1994, pp. 405-8.
    Bonnet D, Pelet A, Legeai-Mallet L, et al. A gene for Holt-Oram syndrome maps to the distal long arm of chromosome 12. Nat Genet. 1994;6(4):405-8.
    Bonnet, D., Pelet, A., Legeai-Mallet, L., Sidi, D., Mathieu, M., Parent, P., ... Weissenbach, J. (1994). A gene for Holt-Oram syndrome maps to the distal long arm of chromosome 12. Nature Genetics, 6(4), pp. 405-8.
    Bonnet D, et al. A Gene for Holt-Oram Syndrome Maps to the Distal Long Arm of Chromosome 12. Nat Genet. 1994;6(4):405-8. PubMed PMID: 8054983.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - A gene for Holt-Oram syndrome maps to the distal long arm of chromosome 12. A1 - Bonnet,D, AU - Pelet,A, AU - Legeai-Mallet,L, AU - Sidi,D, AU - Mathieu,M, AU - Parent,P, AU - Plauchu,H, AU - Serville,F, AU - Schinzel,A, AU - Weissenbach,J, PY - 1994/4/1/pubmed PY - 1994/4/1/medline PY - 1994/4/1/entrez SP - 405 EP - 8 JF - Nature genetics JO - Nat. Genet. VL - 6 IS - 4 N2 - 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 theta = 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. SN - 1061-4036 UR - https://www.unboundmedicine.com/medline/citation/8054983/A_gene_for_Holt_Oram_syndrome_maps_to_the_distal_long_arm_of_chromosome_12_ L2 - http://dx.doi.org/10.1038/ng0494-405 DB - PRIME DP - Unbound Medicine ER -