title: Novel DYSF mutations in Thai patients with distal myopathy.
abstract: Dysferlinopathy refers to a variety of autosomal recessive, skeletal muscle disorders due to the mutations of dysferlin-encoding gene, DYSF. It encompasses limb-girdle muscular dystrophy type 2B (LGMD2B), Miyoshi myopathy (MM), distal myopathy with anterior tibial onset (DMAT), isolated hyperCKemia, rigid spine syndrome and congenital muscular dystrophy. Herein, we report five Thai patients with distal myopathy due to dysferlinopathy including four MM and one DMAT patients. Muscle biopsy from one MM patient depicted numerous ring fibers which is an atypical finding in dysferlinopathy. Mutation analysis of DYSF revealed novel compound heterozygous mutations of p.Tyr309X and c.236+1G>T in two related MM patients, known homozygous mutations, p.Arg89X and p.Gln176X, in two MM patients and a heterozygous missense mutation, p.Arg555Trp, in a DMAT patient. Most of the previously reported DMAT patients were Hispanic. To the best of our knowledge, this is the first report of genetically confirmed patients with dysferlinopathy in Thailand.
authors.affiliation: Division of Neuropathology, Department of Pathology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok-Noi, Bangkok 10700, Thailand. sitll@mahidol.ac.th
authors.forename: Teerin
authors.initials: T
authors.lastname: Liewluck
authors.forename: Sunsanee
authors.initials: S
authors.lastname: Pongpakdee
authors.forename: Rawiphan
authors.initials: R
authors.lastname: Witoonpanich
authors.forename: Tumtip
authors.initials: T
authors.lastname: Sangruchi
authors.forename: Theeraphong
authors.initials: T
authors.lastname: Pho-Iam
authors.forename: Chanin
authors.initials: C
authors.lastname: Limwongse
authors.forename: Wanna
authors.initials: W
authors.lastname: Thongnoppakhun
authors.forename: Kanokwan
authors.initials: K
authors.lastname: Boonyapisit
authors.forename: Varisa
authors.initials: V
authors.lastname: Sopassathit
authors.forename: Suchart
authors.initials: S
authors.lastname: Phudhichareonrat
authors.forename: Udom
authors.initials: U
authors.lastname: Suthiponpaisan
authors.forename: Natte
authors.initials: N
authors.lastname: Raksadawan
authors.forename: Kanako
authors.initials: K
authors.lastname: Goto
authors.forename: Yukiko K
authors.initials: YK
authors.lastname: Hayashi
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
mesh_terms: D000328:Adult; D015153:Blotting, Western; D003402:Creatine Kinase / Q000097:blood; D049310:Distal Myopathies / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D000073939:Dysferlin; D005091:Exons / Q000235:genetics; D005190:Family; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007438:Introns / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009124:Muscle Proteins / Q000235:genetics*; D053580:Muscle Strength; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation / Q000502:physiology; D011110:Polymorphism, Genetic / Q000235:genetics / Q000502:physiology; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013785:Thailand / Q000453:epidemiology; D055815:Young Adult
chemical_list: C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins; D003402:Creatine Kinase