Duchenne muscular dystrophy-like phenotype in an LGMD2I patient with novel FKRP gene variants

Tetsuya Okazaki; Kaori Matsuura; Noriko Kasagi; Kaori Adachi; Masachika Kai; Mariko Okubo; Ichizo Nishino; Eiji Nanba; Yoshihiro Maegaki

doi:10.1038/s41439-020-0099-x

Duchenne muscular dystrophy-like phenotype in an LGMD2I patient with novel FKRP gene variants

Hum Genome Var. 2020 Apr 20:7:12. doi: 10.1038/s41439-020-0099-x. eCollection 2020.

Authors

Tetsuya Okazaki¹, Kaori Matsuura¹, Noriko Kasagi¹, Kaori Adachi², Masachika Kai³, Mariko Okubo⁴, Ichizo Nishino⁴, Eiji Nanba^{1

5}, Yoshihiro Maegaki^{1

6}

Affiliations

¹ 1Division of Clinical Genetics, Tottori University Hospital, Yonago, Japan.
² 2Research Initiative Center, Organization for Research Initiative and Promotion, Tottori University, Yonago, Japan.
³ 3Technical Department, Tottori University, Yonago, Japan.
⁴ 4Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
⁵ 5Research Strategy Division, Organization for Research Initiative and Promotion, Tottori University, Yonago, Japan.
⁶ 6Faculty of Medicine, Division of Child Neurology, Department of Brain and Neurosciences, Tottori University, Yonago, Japan.

Abstract

A 32-year-old man initially received a diagnosis of Duchenne muscular dystrophy (DMD). Genetic analysis revealed two novel heterozygous FKRP variants: c.169G>A (p.Glu57Lys) and c.692G>A (p.Trp231*). These results indicated that the patient had limb-girdle muscular dystrophy type 2I (LGMD2I) caused by recessive FKRP variants. Patients with LGMD2I and DMD have many overlapping phenotypes. LGMD2I should be considered in patients who have a DMD phenotype but not a DMD pathogenic variant.

Keywords: Genetic testing; Neuromuscular disease.