D-2-hydroxyglutaric aciduria in a patient with speech delay due to a novel homozygous deletion in the D2HGDH gene

被引：2

作者：

Phillips, E. ^{[1
]}

Sasarman, F. ^{[1
]}

Sinasac, D. S. ^{[1
]}

Al-Hertani, W. ^{[1
,2
,3
]}

机构：

[1] Univ Calgary, Cummings Sch Med, Dept Med Genet, Alberta Childrens Hosp, Calgary, AB, Canada

[2] Univ Calgary, Alberta Childrens Hosp, Cummings Sch Med, Dept Pediat, Calgary, AB, Canada

[3] Boston Childrens Hosp, Dept Pediat, Div Genet & Genom, 300 Longwood Ave, Boston, MA 02115 USA

来源：

MOLECULAR GENETICS AND METABOLISM REPORTS | 2019年 / 20卷

关键词：

2-Hydroxyglutaric; Aciduria; D-2HGA; D2HGDH; Speech; Delay;

D O I：

10.1016/j.ymgmr.2019.100482

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

D-2-hydroxyglutaric aciduria is a rare neurometabolic condition with a variable clinical spectrum. Here we report on a patient with speech delay, ascertained for an elevated urine 2-hydroxyglutaric acid levels, and found to have a novel pathogenic homozygous deletion in D2HGDH (NG_012012.1(NM_152783.4):c.(292 + 1_293-1)_ (*847_?)del). This case expands on the reported phenotype, with speech delay being the prominent clinical finding and despite identifying a large deletion in the D2HGDH gene, the patient presents with the mild phenotype.

引用

页数：2

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