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婴儿型糖原贮积病II型（庞贝病）中GAA基因第13外显子新发现的c.1824_1828dupATACG突变。

A newly identified c.1824_1828dupATACG mutation in exon 13 of the GAA gene in infantile-onset glycogen storage disease type II (Pompe disease).

作者信息

Aryani Omid, Manshadi Masoumeh Dehghan, Tondar Mahdi, Khalili Elham, Kamalidehghan Behnam, Ahmadipour Fatemeh, Fani Somayeh, Houshmand Massoud

机构信息

Department of Medical Genetics, Special Medical Center, Tehran, Iran.

出版信息

Mol Biol Rep. 2014 Sep;41(9):6211-4. doi: 10.1007/s11033-014-3500-3. Epub 2014 Jun 30.

DOI:10.1007/s11033-014-3500-3
PMID:24976573
Abstract

Pompe disease or glycogen storage disease type II is a glycogen storage disorder associated with malfunction of the acid α-glucosidase enzyme (GAA; EC.3.2.1.3) leading to intracellular aggregations of glycogenin muscles. The infantile-onset type is the most life-threatening form of this disease, in which most of patients suffer from cardiomyopathy and hypotonia in early infancy. In this study, a typical case of Pompe disease was reported in an Iranian patient using molecular analysis of the GAA gene. Our results revealed a new c.1824_1828dupATACG mutation in exon 13 of the GAA gene. In conclusion, with the finding of this novel mutation, the genotypic spectrum of Iranian patients with Pompe disease has been extended, facilitating the definition of disease-related mutations.

摘要

庞贝病或糖原贮积病II型是一种糖原贮积障碍性疾病，与酸性α-葡萄糖苷酶（GAA；EC.3.2.1.3）功能异常相关，可导致糖原在肌肉细胞内聚集。婴儿型是该疾病最危及生命的形式，大多数患者在婴儿早期会出现心肌病和肌张力减退。在本研究中，通过对GAA基因进行分子分析，报告了一名伊朗患者的典型庞贝病病例。我们的结果揭示了GAA基因第13外显子中的一个新的c.1824_1828dupATACG突变。总之，随着这一新突变的发现，伊朗庞贝病患者的基因型谱得以扩展，有助于明确疾病相关突变。

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A newly identified c.1824_1828dupATACG mutation in exon 13 of the GAA gene in infantile-onset glycogen storage disease type II (Pompe disease).婴儿型糖原贮积病II型（庞贝病）中GAA基因第13外显子新发现的c.1824_1828dupATACG突变。
Mol Biol Rep. 2014 Sep;41(9):6211-4. doi: 10.1007/s11033-014-3500-3. Epub 2014 Jun 30.
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引用本文的文献

1
Infantile-onset Pompe disease with neonatal debut: A case report and literature review.新生儿期起病的婴儿型庞贝病：一例报告及文献复习
Medicine (Baltimore). 2017 Dec;96(51):e9186. doi: 10.1097/MD.0000000000009186.

本文引用的文献

1
Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.庞贝病突变数据库更新，包含 60 个新的 GAA 序列变异体，以及对 34 个先前报道的变异体的功能影响的进一步研究。
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Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.庞贝病突变数据库更新：新增107个序列变体及严重程度评级格式
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晚发型庞贝病：38例患者的临床和神经生理学表现，包括18例患者的长期随访
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Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.溶酶体α-葡萄糖苷酶基因（GAA）中的22种新突变突出了II型糖原贮积病的基因型-表型相关性。
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Simultaneous absence of alpha-1,4-glucosidase and alpha-1,6-glucosidase activities (pH 4) in tissues of children with type II glycogen storage disease.II型糖原贮积病患儿组织中同时缺乏α-1,4-葡萄糖苷酶和α-1,6-葡萄糖苷酶活性（pH 4）
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