无眼部症状和中枢神经系统疾病的先天性肌营养不良福库汀突变1例报告

Brain and Development Case Reports Pub Date : 2025-07-11 DOI:10.1016/j.bdcasr.2025.100095

Hiroko Oiwa , Keiko Ishigaki , Yoshihiko Saito , Yasushi Oya , Ichizo Nishino , Yuji Takahashi

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引用次数: 0

摘要

病例报告：我们报告了一位22岁的日本男性，由于3 kb的后转座插入和fukutin基因（FKTN）的点突变，患有严重的先天性肌营养不良症，无智力残疾，归类为先天性肌营养不良-糖营养不良症，无智力迟钝(B4型；MDDGB4;人类613152)。他在婴儿期发病，虽然最终无法行走，但他没有智力障碍。我们认为，该患者不仅在存活的FKTN突变患者中具有最严重的MDDGB4表型，而且在存活的其他α-糖营养不良相关基因突变患者中也是如此。结论与FKTN突变相关的表型并不局限于手足口病，表现形式从重度到轻度不等。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Congenital muscular dystrophy due to fukutin mutations without ocular symptoms and central nervous system disorders: A case report

Case presentation

We report a 22-year-old Japanese man with severe congenital muscular dystrophy without intellectual disability due to a 3-kb retrotransposal insertion and point mutation in the fukutin gene (FKTN), classified as congenital muscular dystrophy-dystroglycanopathy without mental retardation (type B4; MDDGB4; OMIM 613152). The onset was in infancy, and while he eventually lost his ambulation, he had no intellectual disability.

Discussion

We believe that this patient had the most severe MDDGB4 phenotype not only among surviving patients with FKTN mutations but also among surviving patients with mutations in other α-dystroglycanopathy-related genes.

Conclusion

The phenotypes associated with FKTN mutations are not limited to FCMD, ranging from severe to mild in manifestation.

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来源期刊

Brain and Development Case Reports

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