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首页> 外文期刊>Balkan journal of medical genetics: BJMG >A NOVEL MUTATION IN A NEWBORN BABY LEADING TO GLYCOGEN STORAGE DISEASE TYPE IA
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A NOVEL MUTATION IN A NEWBORN BABY LEADING TO GLYCOGEN STORAGE DISEASE TYPE IA

机译：一种新生婴儿的新突变，导致糖原储存疾病IA型

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摘要

Glycogen storage disease type Ia (GSD1A) is caused by mutations in the G6PC gene. The G6PC gene was first cloned in 1993. Since then, many different mutations have been identified leading to this disease. Hepatomegaly is one of the important clinical manifestations of the disease. A 23-day-old girl was admitted to the hospital due to respiratory distress. Her physical examination was normal except for tachypnea. She had hypoglycemia, lactic academia, hyperlipidemia and hyperuricemia. With these clinical findings, GSD1A was considered in the patient and the diagnosis was genetically confirmed. By direct sequencing of the G6PC gene, we identified a novel homozygous variation (c.137T>G/p.Leu46Arg) in the patient and the healthy mother and father were heterozygotes for the variant. Here we present a case with a novel homozygous missense mutation c.137T>G/p.Leu46Arg in the G6PC gene leading to GSD1A clinical findings except early hepatomegaly. These findings expand the spectrum of causative mutations, and clinical findings in GSD1A.
机译：糖原储存疾病IA（GSD1A）是由G6PC基因的突变引起的。 1993年首次克隆了G6PC基因。从那时起，已鉴定出许多不同的突变导致这种疾病。肝肿大是疾病的重要临床表现之一。由于呼吸窘迫，一名23天大的女孩被送往医院。除了Tachypnea，她的体检是正常的。她患有低血糖，乳酸学术病症，高脂血症和高尿酸血症。通过这些临床发现，在患者中考虑了GSD1a，诊断被遗传证实。通过直接测序G6PC基因，我们鉴定了患者中的新型纯合子变异（C.137T> G / P.LEU46ARG），健康的母亲和父亲是变体的杂合子。在这里，我们在G6PC基因中展示了一种新的纯合物畸形突变C.137T> G / P.leu46ARG，导致除了早期肝肿之外的GSD1A临床调查结果。这些发现扩展了GSD1A中的致病性突变的光谱和临床发现。

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