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.

中文翻译：

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Marfanoid-早老性-脂肪营养不良综合征的一例：跳过外显子和逃避无意义介导的衰变的实验证据

我们报告一例日本患者，其身材高大，长头畸形，前额突出，鼻梁狭窄，轻度下颌后缩，皮下脂肪减少，双侧眼睑内翻，高弓腭，长手指，轻度过度伸展指关节作为Marfanoid-progeroid的病例-脂肪营养不良综合征。遗传研究发现FBN1基因中存在杂合变异 NC_000015.10(NM_000138.5):c.8226+5G>A 。在先证者的 mRNA 中，实验证实了外显子 65 的跳跃和逃逸无义介导的衰变以及随后的移码。