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.
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.
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。
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