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一例马凡样-早老样-脂肪营养不良综合征：外显子跳跃及逃避无义介导衰变的实验证据

A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay.

作者信息

Moriwaki Takahito, Masuno Mitsuo, Nagata Miho, Ishihara Yasuki, Miyashita Yohei, Asano Yoshihiro, Takao Kayo, Tawa Kazumi, Yamanouchi Yasuko, Miki Atsushi, Otomo Takanobu

机构信息

Department of Molecular and Genetic Medicine, Kawasaki Medical School, Kurashiki, Japan.

Department of Medical Genetics, Kawasaki Medical School Hospital, Kurashiki, Japan.

出版信息

Hum Genome Var. 2023 Oct 16;10(1):27. doi: 10.1038/s41439-023-00255-8.

DOI:10.1038/s41439-023-00255-8
PMID:37845262
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10579217/
Abstract

We report a Japanese patient with tall stature, dolichocephaly, prominent forehead, narrow nasal ridge, mild retrognathia, subcutaneous fat reduction, bilateral entropion of both eyelids, high arched palate, long fingers, and mild hyperextensible finger joints as a case of Marfanoid-progeroid-lipodystrophy syndrome. Genetic investigation revealed a heterozygous variant NC_000015.10(NM_000138.5):c.8226+5G>A in the FBN1 gene. Skipping of exon 65 and escaping nonsense-mediated decay followed by frameshift were experimentally confirmed in the proband's mRNA.

摘要

我们报告了一名日本患者，其具有身材高大、长头畸形、前额突出、鼻嵴狭窄、轻度下颌后缩、皮下脂肪减少、双侧眼睑内翻、高拱腭、手指细长以及手指关节轻度过度伸展等症状，诊断为类马凡氏-早老样-脂肪营养不良综合征。基因检测发现FBN1基因存在杂合变异NC_000015.10(NM_000138.5):c.8226+5G>A。在该先证者的mRNA中通过实验证实了外显子65跳跃且逃避了无义介导的衰变，随后发生了移码。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9711/10579217/f2f8ee333045/41439_2023_255_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9711/10579217/12027ae8038c/41439_2023_255_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9711/10579217/f2f8ee333045/41439_2023_255_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9711/10579217/12027ae8038c/41439_2023_255_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9711/10579217/f2f8ee333045/41439_2023_255_Fig2_HTML.jpg

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本文引用的文献

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Hum Genome Var. 2022 Jul 25;9(1):26. doi: 10.1038/s41439-022-00203-y.
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Six years' accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures.罕见病与疑难病攻关工程六年成果：日本全国性项目旨在发现病因、机制和治疗方法。
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由 FBN1 中涉及的等位基因截断突变引起的不同临床表型的遗传和分子机制。
Mol Genet Genomic Med. 2020 Jan;8(1):e1023. doi: 10.1002/mgg3.1023. Epub 2019 Nov 27.
4
Asprosin is a centrally acting orexigenic hormone.阿朴脂蛋白是一种中枢作用的促食欲激素。
Nat Med. 2017 Dec;23(12):1444-1453. doi: 10.1038/nm.4432. Epub 2017 Nov 6.
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Diagnostic value of exome and whole genome sequencing in craniosynostosis.外显子组和全基因组测序在颅缝早闭中的诊断价值。
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