First Korean Family with a Mutation in TPM2 Associated with Sheldon-Hall Syndrome.
10.3346/jkms.2013.28.5.780
- Author:
Jung Min KO
1
;
In Ho CHOI
;
Goo Hyun BAEK
;
Kee Won KIM
Author Information
1. Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea. jmko@snu.ac.kr
- Publication Type:Case Reports ; Research Support, Non-U.S. Gov't
- Keywords:
TPM2;
Tropomyosin;
Sheldon-Hall Syndrome;
Distal Arthrogryposis;
Variable Expression
- MeSH:
Alleles;
Arthrogryposis/*genetics;
Asian Continental Ancestry Group/*genetics;
Exons;
Female;
Finger Phalanges/radiography;
Foot Bones/radiography;
Humans;
Infant, Newborn;
Mutation;
Pedigree;
Phenotype;
Republic of Korea;
Sequence Analysis, DNA;
Tropomyosin/*genetics
- From:Journal of Korean Medical Science
2013;28(5):780-783
- CountryRepublic of Korea
- Language:English
-
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.
