Danon disease: a case report and literature review.
Danon disease: a case report and literature review.
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达农病：病例报告及文献复习
DOI：
10.1186/s13000-021-01100-8
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发表时间：
2021-05-01
影响因子：
2.6
通讯作者：
Xu B
中科院分区：
文献类型：
--
作者：
Xu J;Li Z;Liu Y;Zhang X;Niu F;Zheng H;Wang L;Kang L;Wang K;Xu B
Danon病（DD）是一种罕见的X连锁显性遗传性多系统疾病，临床表现为严重心肌病、骨骼肌病和智力低下。它是由溶酶体相关膜蛋白-2（LAMP 2）基因缺陷引起的，导致骨骼肌和心肌纤维中含有糖原颗粒沉积物的自噬空泡形成。到目前为止，已经确定了50多种不同的突变在LAMP 2。病例介绍在这里，我们报告一个18岁的男性患者谁是心力衰竭住院。左股外侧肌活检显示肌纤维中散在的自噬空泡，糖原增加。采用下一代测序技术（NGS）检测先证者的基因突变，在LAMP 2的第8外显子发现一个新的移码突变（c.1052delG），该突变导致LAMP 2蛋白的截短。结论我们在LAMP 2的第8外显子发现一个新的移码突变，即半合子突变（c.1052delG），该突变被鉴定为肥厚型心肌病（HCM）的表现型。遗传分析是诊断DD的金标准，对于确定适当的治疗策略和确认家庭成员的遗传风险至关重要。
BackgroundDanon disease (DD) is a rare x-linked dominant multisystemic disorder with a clinical triad of severe cardiomyopathy, skeletal myopathy, and mental retardation. It is caused by a defect in the lysosomal-associated membrane protein-2 (LAMP2) gene, which leads to the formation of autophagic vacuoles containing glycogen granule deposits in skeletal and cardiac muscle fibers. So far, more than 50 different mutations inLAMP2 have been identified.Case presentationHere, we report an 18-year-old male patient who was hospitalized for heart failure. Biopsy of the left lateral femoral muscle revealed scattered autophagic vacuoles in the muscle fibers with increased glycogen. Next generation sequencing (NGS) was used to detect gene mutations of the proband sample and a novel frameshift mutation (c.1052delG) has been identified in exon 8 ofLAMP2, which leads to truncation of the protein.ConclusionWe found a novel frameshift mutation, a hemizygous mutation (c.1052delG) in exon 8 ofLAMP2, identified as presenting the hypertrophic cardiomyopathy (HCM) phenotype. Genetic analysis is the gold standard for the diagnosis of DD and is essential to determine appropriate treatment strategies and to confirm the genetic risk of family members.
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DOI：
10.1038/s41436-018-0046-0
发表时间：
2019-03
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Mazzarotto F;Girolami F;Boschi B;Barlocco F;Tomberli A;Baldini K;Coppini R;Tanini I;Bardi S;Contini E;Cecchi F;Pelo E;Cook SA;Cerbai E;Poggesi C;Torricelli F;Walsh R;Olivotto I
通讯作者：
Olivotto I
影响因子：
5.9
作者：
Lopez-Sainz, Angela;Salazar-Mendiguchia, Joel;Garcia-Pavia, Pablo
通讯作者：
Garcia-Pavia, Pablo
影响因子：
2.8
作者：
Miani, Daniela;Taylor, Matthew;Proclemer, Alessandro
通讯作者：
Proclemer, Alessandro
影响因子：
9
作者：
Nascimbeni AC;Fanin M;Angelini C;Sandri M
通讯作者：
Sandri M
影响因子：
120.7
作者：
Maron, Barry J.;Roberts, William C.;Arad, Michael;Haas, Tammy S.;Spirito, Paolo;Wright, Gregory B.;Almquist, Adrian K.;Baffa, Jeanne M.;Saul, J. Philip;Ho, Carolyn Y.;Seidman, Jonathan;Seidman, Christine E.
通讯作者：
Seidman, Christine E.