title: First Korean family with a mutation in TPM2 associated with Sheldon-Hall syndrome.
abstract: Sheldon-Hall syndrome (SHS) is a rare autosomal dominant, inherited arthrogryposis syndrome characterized by multiple congenital contractures of the distal limbs. To date, four genes that encode the skeletal muscle fiber complex have been confirmed as the causative genes. Mutations in MYH3 have been identified most frequently and few cases of SHS caused by TPM2 mutations have been reported worldwide. This report describes, for the first time, a Korean family with two generations of SHS resulting from a rare TPM2 mutation, p.R133W. The affected mother and daughter manifested typical facial features of SHS including a triangular face with downslanting palpebral fissures, small mouth, high arched palate, and prominent nasolabial folds, and showed camptodactyly of fingers and deformities of feet with congenital vertical tali. Generalized myopathy with relative sparing of the slow-twitch muscle fibers was also revealed by electromyography in the affected mother.
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea. jmko@snu.ac.kr
authors.forename: Jung Min
authors.initials: JM
authors.lastname: Ko
authors.forename: In-Ho
authors.initials: IH
authors.lastname: Choi
authors.forename: Goo-Hyun
authors.initials: GH
authors.lastname: Baek
authors.forename: Kee-Won
authors.initials: KW
authors.lastname: Kim
mesh_terms: D000483:Alleles; D001176:Arthrogryposis / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D005091:Exons; D005260:Female; D050278:Finger Phalanges / Q000000981:diagnostic imaging; D005529:Foot Bones / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011859:Radiography; D056910:Republic of Korea; D017422:Sequence Analysis, DNA; D014335:Tropomyosin / Q000235:genetics*
chemical_list: C518659:TPM2 protein, human; D014335:Tropomyosin
keywords: Distal Arthrogryposis; Sheldon-Hall Syndrome; TPM2; Tropomyosin; Variable Expression