A Novel TBX1 variant causing hypoparathyroidism and deafness.

M. Alghamdi, R. Al Khalifah, D.K. Al Homyani, W.H. Alkhamis, S.T. Arold, A. Ekhzaimy, M. El-Wetidy, T. Kashour, R. Halwani
Journal of the Endocrine Society, (2019)

A Novel TBX1 variant causing hypoparathyroidism and deafness.

Keywords

DiGeorge syndrome, TBX1 gene, hypocalcemia, hypoparathyroidism, SNHL

Abstract

​The TBX1 gene encodes the T-box 1 protein that is a transcription factor involved in development. Haploinsufficiency of the TBX1 gene is reported to cause features similar to DiGeorge syndrome. The TBX1 gene is located within the DiGeorge syndrome region, and studies support that the TBX1gene is responsible for most of the features of the phenotype of hemizygous deletion of chromosome 22q11.2. In this study, we report a family of 4 (a father with 3 children) who presented with congenital hypoparathyroidism and hypocalcemia, facial asymmetry, deafness, normal intelligence, and no cardiac involvement.

Code

doi.org/10.1210/jendso/bvz028

Sources

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