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Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family.
Nat Genet. 1997 Jan; 15(1):21-9.NGen

Abstract

Holt-Oram syndrome is a developmental disorder affecting the heart and upper limb, the gene for which was mapped to chromosome 12 two years ago. We have now identified a gene for this disorder (HOS1). The gene (TBX5) is a member of the Brachyury (T) family corresponding to the mouse Tbx5 gene. We have identified six mutations, three in HOS families and three in sporadic HOS cases. Each of the mutations introduces a premature stop codon in the TBX5 gene product. Tissue in situ hybridization studies on human embryos from days 26 to 52 of gestation reveal expression of TBX5 in heart and limb, consistent with a role in human embryonic development.

Authors+Show Affiliations

Department of Genetics, University of Nottingham, Queen's Medical Centre, UK.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

8988164

Citation

Li, Q Y., et al. "Holt-Oram Syndrome Is Caused By Mutations in TBX5, a Member of the Brachyury (T) Gene Family." Nature Genetics, vol. 15, no. 1, 1997, pp. 21-9.
Li QY, Newbury-Ecob RA, Terrett JA, et al. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nat Genet. 1997;15(1):21-9.
Li, Q. Y., Newbury-Ecob, R. A., Terrett, J. A., Wilson, D. I., Curtis, A. R., Yi, C. H., Gebuhr, T., Bullen, P. J., Robson, S. C., Strachan, T., Bonnet, D., Lyonnet, S., Young, I. D., Raeburn, J. A., Buckler, A. J., Law, D. J., & Brook, J. D. (1997). Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nature Genetics, 15(1), 21-9.
Li QY, et al. Holt-Oram Syndrome Is Caused By Mutations in TBX5, a Member of the Brachyury (T) Gene Family. Nat Genet. 1997;15(1):21-9. PubMed PMID: 8988164.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. AU - Li,Q Y, AU - Newbury-Ecob,R A, AU - Terrett,J A, AU - Wilson,D I, AU - Curtis,A R, AU - Yi,C H, AU - Gebuhr,T, AU - Bullen,P J, AU - Robson,S C, AU - Strachan,T, AU - Bonnet,D, AU - Lyonnet,S, AU - Young,I D, AU - Raeburn,J A, AU - Buckler,A J, AU - Law,D J, AU - Brook,J D, PY - 1997/1/1/pubmed PY - 1997/1/1/medline PY - 1997/1/1/entrez SP - 21 EP - 9 JF - Nature genetics JO - Nat. Genet. VL - 15 IS - 1 N2 - Holt-Oram syndrome is a developmental disorder affecting the heart and upper limb, the gene for which was mapped to chromosome 12 two years ago. We have now identified a gene for this disorder (HOS1). The gene (TBX5) is a member of the Brachyury (T) family corresponding to the mouse Tbx5 gene. We have identified six mutations, three in HOS families and three in sporadic HOS cases. Each of the mutations introduces a premature stop codon in the TBX5 gene product. Tissue in situ hybridization studies on human embryos from days 26 to 52 of gestation reveal expression of TBX5 in heart and limb, consistent with a role in human embryonic development. SN - 1061-4036 UR - https://www.unboundmedicine.com/medline/citation/8988164/Holt_Oram_syndrome_is_caused_by_mutations_in_TBX5_a_member_of_the_Brachyury__T__gene_family_ L2 - http://dx.doi.org/10.1038/ng0197-21 DB - PRIME DP - Unbound Medicine ER -