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Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome.
Nat Genet 1997; 15(1):30-5NGen

Abstract

Holt-Oram syndrome is characterized by upper limb malformations and cardiac septation defects. Here, we demonstrate that mutations in the human TBX5 gene underlie this disorder. TBX5 was cloned from the disease locus on human chromosome 12q24.1 and identified as a member of the T-box transcription factor family. A nonsense mutation in TBX5 causes Holt-Oram syndrome in affected members of one family; a TBX5 missense mutation was identified in affected members of another. We conclude that TBX5 is critical for limb and heart development and suggest that haploinsufficiency of TBX5 causes Holt-Oram syndrome.

Authors+Show Affiliations

Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA.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 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

8988165

Citation

Basson, C T., et al. "Mutations in Human TBX5 [corrected] Cause Limb and Cardiac Malformation in Holt-Oram Syndrome." Nature Genetics, vol. 15, no. 1, 1997, pp. 30-5.
Basson CT, Bachinsky DR, Lin RC, et al. Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. Nat Genet. 1997;15(1):30-5.
Basson, C. T., Bachinsky, D. R., Lin, R. C., Levi, T., Elkins, J. A., Soults, J., ... Seidman, C. E. (1997). Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. Nature Genetics, 15(1), pp. 30-5.
Basson CT, et al. Mutations in Human TBX5 [corrected] Cause Limb and Cardiac Malformation in Holt-Oram Syndrome. Nat Genet. 1997;15(1):30-5. PubMed PMID: 8988165.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. AU - Basson,C T, AU - Bachinsky,D R, AU - Lin,R C, AU - Levi,T, AU - Elkins,J A, AU - Soults,J, AU - Grayzel,D, AU - Kroumpouzou,E, AU - Traill,T A, AU - Leblanc-Straceski,J, AU - Renault,B, AU - Kucherlapati,R, AU - Seidman,J G, AU - Seidman,C E, PY - 1997/1/1/pubmed PY - 1997/1/1/medline PY - 1997/1/1/entrez SP - 30 EP - 5 JF - Nature genetics JO - Nat. Genet. VL - 15 IS - 1 N2 - Holt-Oram syndrome is characterized by upper limb malformations and cardiac septation defects. Here, we demonstrate that mutations in the human TBX5 gene underlie this disorder. TBX5 was cloned from the disease locus on human chromosome 12q24.1 and identified as a member of the T-box transcription factor family. A nonsense mutation in TBX5 causes Holt-Oram syndrome in affected members of one family; a TBX5 missense mutation was identified in affected members of another. We conclude that TBX5 is critical for limb and heart development and suggest that haploinsufficiency of TBX5 causes Holt-Oram syndrome. SN - 1061-4036 UR - https://www.unboundmedicine.com/medline/citation/8988165/Mutations_in_human_TBX5_[corrected]_cause_limb_and_cardiac_malformation_in_Holt_Oram_syndrome_ L2 - http://dx.doi.org/10.1038/ng0197-30 DB - PRIME DP - Unbound Medicine ER -