Novel DNA mutation in the GATA3 gene in an Emirati boy with HDR syndrome and hypomagnesemia

被引：15
|
作者：
Al-Shibli, Amar [1 ]
Al Attrach, Ibrahim [1 ]
Willems, Patrick J. [2 ]
机构：
[1] Tawam Hosp, Dept Pediat, POB 15258, Al Ain, U Arab Emirates
[2] GENDIA Genet Diagnost Network, Antwerp, Belgium
来源：
PEDIATRIC NEPHROLOGY | 2011年 / 26卷 / 07期
关键词：
HDR syndrome; Hypoparathyroidism; Deafness; Renal dysplasia; Hypomagnesemia; GATA3; SENSORINEURAL DEAFNESS; HYPOPARATHYROIDISM; INSUFFICIENCY;
D O I：
10.1007/s00467-011-1835-8
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
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.
引用
收藏
页码：1167 / 1170
页数：4
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