title: Novel DNA mutation in the GATA3 gene in an Emirati boy with HDR syndrome and hypomagnesemia.
abstract: We report the case of a young Emirati boy with HDR (Hypoparathyroidism, sensorineural Deafness, and Renal hypoplasia) syndrome due to the novel heterozygous deletion of two nucleotides (c.35_36delGC ) in exon 2 of the GATA3 gene. The patient developed hypocalcemia and hypomagnesemia at 3 weeks of age with high fractional excretion of magnesium, indicating renal magnesium loss. This is the first published report of hypomagnesemia in association with HDR syndrome.
authors.affiliation: Department of Pediatrics, Tawam Hospital, P.O. Box 15258, Al-Ain, United Arab Emirates. ashibli@tawamhospital.ae
authors.forename: Amar
authors.initials: A
authors.lastname: Al-Shibli
authors.forename: Ibrahim
authors.initials: I
authors.lastname: Al Attrach
authors.forename: Patrick J
authors.initials: PJ
authors.lastname: Willems
mesh_terms: D001299:Audiometry; D015415:Biomarkers / Q000097:blood; D004252:DNA Mutational Analysis; D019587:Dietary Supplements; D005091:Exons; D050990:GATA3 Transcription Factor / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006319:Hearing Loss, Sensorineural / Q000188:drug therapy / Q000235:genetics*; D006801:Humans; D006996:Hypocalcemia / Q000097:blood / Q000188:drug therapy / Q000235:genetics; D007011:Hypoparathyroidism / Q000188:drug therapy / Q000235:genetics*; D007231:Infant, Newborn; D007668:Kidney / Q000378:metabolism*; D008274:Magnesium / Q000097:blood*; D008297:Male; D009401:Nephrosis / Q000188:drug therapy / Q000235:genetics*; D010641:Phenotype; D017384:Sequence Deletion; D014479:United Arab Emirates
chemical_list: D015415:Biomarkers; D050990:GATA3 Transcription Factor; C494749:GATA3 protein, human; D008274:Magnesium