Exome Sequencing Identifies a c.148-1G>C Mutation of TBX5 in a Holt-Oram Family with Unusual Genotype-Phenotype Correlations | Zendy

Qianqian Guo | Zendy; Jia Shen | Zendy; Yang Liu | Zendy; Pu Tian | Zendy; Kun Sun | Zendy; Chen Sun | Zendy

Open Access

Exome Sequencing Identifies a c.148-1G>C Mutation of TBX5 in a Holt-Oram Family with Unusual Genotype-Phenotype Correlations

Author(s) -

Qianqian Guo,

Jia Shen,

Yang Liu,

Pu Tian,

Kun Sun,

Chen Sun

Publication year - 2015

Publication title -

cellular physiology and biochemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.486

H-Index - 87

eISSN - 1421-9778

pISSN - 1015-8987

DOI - 10.1159/000430232

Subject(s) - proband , exome sequencing , genetics , haploinsufficiency , mutation , phenotype , biology , exome , genotype , nonsense mutation , gene , medicine , missense mutation

Congenital heart defects (CHD) can occur with upper limbs deformities. Holt-Oram syndrome is the main type of heart-hand syndromes, characterized by upper limb radial ray malformations, CHD and/or conduction abnormalities. Mutations of the TBX5 gene, most of which are found within the T-box domain, are one cause of the disease. We aimed to find the cause of the disease in a family with two children exhibiting symptoms of Holt-Oram syndrome while the parents tend to be normal.

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