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一名患有阿拉扎米综合征患者的该基因中的新型复合杂合变异体。

Novel compound heterozygous variants in the gene in a patient with Alazami syndrome.

作者信息

Dateki Sumito, Kitajima Tasuku, Kihara Toshiharu, Watanabe Satoshi, Yoshiura Koh-Ichiro, Moriuchi Hiroyuki

机构信息

Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

Department of Pediatrics, Nagasaki Goto Chuou Hospital, Nagasaki, Japan.

出版信息

Hum Genome Var. 2018 Mar 29;5:18014. doi: 10.1038/hgv.2018.14. eCollection 2018.

DOI:10.1038/hgv.2018.14
PMID:29619239
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5874394/
Abstract

The gene encodes a chaperone protein of the noncoding RNA 75 K, and mutations in this gene have been identified in patients with Alazami syndrome. Herein, we report another Japanese patient with Alazami syndrome and novel compound heterozygous variants in (i.e., c.370delG, p.Glu124fs*38 and c.641_667+25del involving the splice donor site of intron 8). These findings provide further evidence that biallelic LARP7 defects cause the phenotype of Alazami syndrome.

摘要

该基因编码一种非编码RNA 75K的伴侣蛋白，在阿拉扎米综合征患者中已鉴定出该基因的突变。在此，我们报告了另一例患有阿拉扎米综合征的日本患者以及该基因中的新型复合杂合变体（即c.370delG、p.Glu124fs*38和c.641_667+25del，涉及内含子8的剪接供体位点）。这些发现进一步证明双等位基因LARP7缺陷导致阿拉扎米综合征的表型。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e167/5874394/245bfc2b9790/hgv201814-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e167/5874394/245bfc2b9790/hgv201814-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e167/5874394/245bfc2b9790/hgv201814-f1.jpg

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本文引用的文献

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BMC Genomics. 2016 Oct 17;17(Suppl 9):749. doi: 10.1186/s12864-016-3093-4.
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J Hum Genet. 2016 Mar;61(3):229-33. doi: 10.1038/jhg.2015.134. Epub 2015 Nov 26.
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Compound heterozygous variants in the LARP7 gene as a cause of Alazami syndrome in a Caucasian female with significant failure to thrive, short stature, and developmental disability.
患有苯丙酮尿症和智力残疾的患者——问题并不总是完全由代谢控制不足引起（PKU 与 Alazami 综合征共存）。
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Stabilize and connect: the role of LARP7 in nuclear non-coding RNA metabolism.稳定与连接：LARP7 在核非编码 RNA 代谢中的作用。
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Genes (Basel). 2020 Mar 31;11(4):379. doi: 10.3390/genes11040379.
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Sci Rep. 2019 Aug 29;9(1):12516. doi: 10.1038/s41598-019-49032-0.
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