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Molecular characterization of a 14q deletion in a boy with features of Holt-Oram syndrome.

Abstract

Holt-Oram syndrome, the major "heart-hand" syndrome is defined by the association of radial defects or triphalangeal thumbs and septal heart defects. The transmission is autosomal dominant and the causative gene has been shown to be TBX5, located on 12q24.1, which encodes a transcription factor. Genetic heterogeneity has been suggested by several reports. We identified a 14(q23.3 approximately 24.2q31.1) deletion in a boy presenting severe bilateral asymmetrical radial aplasia, congenital heart defects, and developmental delay. This deletion, whose size could be estimated to be 9.6-13.7 Mb, was shown to be inherited via his mother's interchromosomal insertion. This is the second report of a chromosome 14 interstitial deletion associated with clinical features of Holt-Oram syndrome. These observations suggest the existence of a new "heart-hand" locus on chromosome 14q.

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  • Authors+Show Affiliations

    ,

    Department of Genetics, University Hospital, Rouen, France.

    , , , , , , , , , , , ,

    Source

    MeSH

    Abnormalities, Multiple
    Chromosome Banding
    Chromosome Deletion
    Chromosomes, Human, Pair 14
    Fatal Outcome
    Hand Deformities, Congenital
    Heart Defects, Congenital
    Humans
    In Situ Hybridization, Fluorescence
    Infant
    Infant, Newborn
    Karyotyping
    Male
    Syndrome

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    15810003

    Citation

    Le Meur, Nathalie, et al. "Molecular Characterization of a 14q Deletion in a Boy With Features of Holt-Oram Syndrome." American Journal of Medical Genetics. Part A, vol. 134, no. 4, 2005, pp. 439-42.
    Le Meur N, Goldenberg A, Michel-Adde C, et al. Molecular characterization of a 14q deletion in a boy with features of Holt-Oram syndrome. Am J Med Genet A. 2005;134(4):439-42.
    Le Meur, N., Goldenberg, A., Michel-Adde, C., Drouin-Garraud, V., Blaysat, G., Marret, S., ... Rossi, A. (2005). Molecular characterization of a 14q deletion in a boy with features of Holt-Oram syndrome. American Journal of Medical Genetics. Part A, 134(4), pp. 439-42.
    Le Meur N, et al. Molecular Characterization of a 14q Deletion in a Boy With Features of Holt-Oram Syndrome. Am J Med Genet A. 2005 May 1;134(4):439-42. PubMed PMID: 15810003.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Molecular characterization of a 14q deletion in a boy with features of Holt-Oram syndrome. AU - Le Meur,Nathalie, AU - Goldenberg,Alice, AU - Michel-Adde,Christine, AU - Drouin-Garraud,Valérie, AU - Blaysat,Gérard, AU - Marret,Stéphane, AU - Amara,Saad Abu, AU - Moirot,Hélène, AU - Joly-Hélas,Géraldine, AU - Mace,Bertrand, AU - Kleinfinger,Pascale, AU - Saugier-Veber,Pascale, AU - Frébourg,Thierry, AU - Rossi,Annick, PY - 2005/4/6/pubmed PY - 2005/6/28/medline PY - 2005/4/6/entrez SP - 439 EP - 42 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 134 IS - 4 N2 - Holt-Oram syndrome, the major "heart-hand" syndrome is defined by the association of radial defects or triphalangeal thumbs and septal heart defects. The transmission is autosomal dominant and the causative gene has been shown to be TBX5, located on 12q24.1, which encodes a transcription factor. Genetic heterogeneity has been suggested by several reports. We identified a 14(q23.3 approximately 24.2q31.1) deletion in a boy presenting severe bilateral asymmetrical radial aplasia, congenital heart defects, and developmental delay. This deletion, whose size could be estimated to be 9.6-13.7 Mb, was shown to be inherited via his mother's interchromosomal insertion. This is the second report of a chromosome 14 interstitial deletion associated with clinical features of Holt-Oram syndrome. These observations suggest the existence of a new "heart-hand" locus on chromosome 14q. SN - 1552-4825 UR - https://www.unboundmedicine.com/medline/citation/15810003/Molecular_characterization_of_a_14q_deletion_in_a_boy_with_features_of_Holt_Oram_syndrome_ L2 - https://doi.org/10.1002/ajmg.a.30660 DB - PRIME DP - Unbound Medicine ER -