Marfanoid-Progoid脂肪营养不良综合征一例：跳过外显子和逃避无意义介导的衰变的实验证明。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2023-10-16 DOI:10.1038/s41439-023-00255-8

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

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引用次数: 0

摘要

我们报告了一名日本患者，该患者身材高大，小头，前额突出，鼻嵴狭窄，轻度后颚畸形，皮下脂肪减少，双眼皮双侧内翻，上腭高弓，手指长，手指关节轻度超伸，是一例Marfanoid前类固醇脂肪营养不良综合征。遗传调查显示FBN1基因中存在杂合变体NC_000015.10（NM_000138.5）：c.8226+5G>a。在先证者的信使核糖核酸中，实验证实了第65外显子的跳过和无义介导的衰变后的移码。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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

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

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.

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来源期刊

Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

13 weeks