Rinsho Shinkeigaku (Clinical Neurology)

Case Report

A Japanese family with POMT2-related limb girdle muscular dystrophy

Yuki Tomita, M.D.1), Nemu Matusya, M.D.1), Tomoko Narita, M.D.1), Yoshihiko Saito, M.D., Ph.D.2), Ichizo Nishino, M.D., Ph.D.2) and Takayasu Fukudome, M.D.1)

1) Department of Neurology, National Hospital Organization Nagasaki Kawatana Medical Center
2) Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry

Mutations in the gene encoding the protein O-mannosyl-transferase 2 (POMT2) are known to cause autosomal recessive limb girdle muscular dystrophy type 14 (LGMDR14). No Japanese patient with LGMDR14 has been reported previously. Here, we report three patients with LGMDR14 in one family. The first and second patients harbored a novel homozygous mutation of c.1568A>G, while the third harbored a compound heterozygous mutation of c.1568A>G and c.869C>T. The novel c.1568A>G mutation is classified as likely pathogenic by the guideline of the American College of Medical Genetics and Genomics. Similar to previous cases, all three patients presented difficulty walking and cognitive impairment, and the hamstring muscles were severely affected. Although eye abnormality has only been reported in one previous case, two our patients showed eye abnormalities. As POMT2 enzymatic activity has been demonstrated in the mammalian retina, an eye abnormality may represent a phenotype associated with POMT2 mutation.
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(CLINICA NEUROL, 61: 378－384, 2021)
key words: LGMDR14, POMT2 gene, α-dystroglycanopathy, familial onset, eye abnormality

(Received: 13-Nov-20)