Novel DNA mutation in the GATA3 gene in an Emirati boy with HDR syndrome and hypomagnesemia
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : Amar Al-Shibli & Ibrahim Al Attrach & Patrick J. Willems
- چاپ و سال / کشور: 2011
Description
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.
Pediatr Nephrol (2011) 26:1167–1170 DOI 10.1007/s00467-011-1835-8 Received: 10 November 2010 / Revised: 15 February 2011 / Accepted: 17 February 2011 / Published online: 12 March 2011
