A Novel De novo GATA-binding Protein 3 Mutation in a Patient with Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome
نویسندگان
چکیده
GATA3 belongs to a family of dual zinc finger transcription factors. There are six GATA proteins (GATA 1–6) that share a zinc finger DNA‐binding domain Cys‐X2‐Cys‐X17‐Cys‐X2‐Cys, where X represents any amino acid residue. This domain binds to the consensus motif 5’‐(A/T)GATA(A/G)‐3’. GATA proteins are widely expressed during the development processes of the human cardiovascular, digestive, urogenital, and hematopoietic systems. More specifically, GATA3 is expressed in the parathyroids, inner ears, and kidneys during development.[2] More than 50 mutations in GATA3 gene have been reported till now.[3] In this study, we reported a novel GATA3 gene mutation in a patient with HDR syndrome.
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Background: Barakat syndrome is a rare autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease, collectively known as HDR syndrome. This disease is caused by the mutation of GATA3 gene located on chromosome 10p15. GATA3 is involved in the embryonic development of kidneys, inner ears, parathyroid glands, and central nervous systems.Case report: ...
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