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A MYH3 mutation identified for the first time in a Chinese family with Sheldon-Hall syndrome (DA2B).
Neuromuscul Disord. 2018 05; 28(5):456-462.ND

Abstract

Sheldon-Hall syndrome is the most common type of distal arthrogryposis syndromes, also known as distal arthrogryposis 2B (DA2B). Sheldon-Hall syndrome is caused by mutations in the TPM2, TNNI2, TNNT3 or MYH3 gene and characterized by ulnar deviation, camptodactyly, overlapping fingers and scoliosis from birth. We investigated a Chinese family with multiple members who clinically presented with distal arthrogryposis of the hands. In total, 261 subjects including one proband and ten family members from the non-consanguineous Chinese family and 250 healthy volunteers were included and had their genomic DNA extracted. A novel missense mutation in exon 13 of the MYH3 gene, c.1160A > G (p.Tyr387Cys), was identified in the proband and his father through whole-exome sequencing. The proband and six affected family members were confirmed to carry this mutation by Sanger sequencing, although the mutation was not detected in the four unaffected individuals or 250 volunteers. This is the first report of a novel MYH3 mutation being identified as the cause of DA2B in a Chinese family. Our findings confirm that MYH3 gene mutations can be a pathogenic cause of DA2B in Asian patients. This study increases the mutational spectrum in MYH3 and aids genetic counseling and prenatal diagnosis.

Authors+Show Affiliations

Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Disease, Shanghai Jiao Tong University Affiliated Six People's Hospital, 600 Yi-Shan Rd., Shanghai, 200233, PR China.Department of Orthopedic Surgery, Shanghai Jiao Tong University Affiliated Six People's Hospital, 600 Yi-Shan Rd., Shanghai, 200233, PR China. Electronic address: kangqinglin@hotmail.com.Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Disease, Shanghai Jiao Tong University Affiliated Six People's Hospital, 600 Yi-Shan Rd., Shanghai, 200233, PR China. Electronic address: zzl2002@medmail.com.cn.

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

29625835

Citation

Xu, Yang, et al. "A MYH3 Mutation Identified for the First Time in a Chinese Family With Sheldon-Hall Syndrome (DA2B)." Neuromuscular Disorders : NMD, vol. 28, no. 5, 2018, pp. 456-462.
Xu Y, Kang QL, Zhang ZL. A MYH3 mutation identified for the first time in a Chinese family with Sheldon-Hall syndrome (DA2B). Neuromuscul Disord. 2018;28(5):456-462.
Xu, Y., Kang, Q. L., & Zhang, Z. L. (2018). A MYH3 mutation identified for the first time in a Chinese family with Sheldon-Hall syndrome (DA2B). Neuromuscular Disorders : NMD, 28(5), 456-462. https://doi.org/10.1016/j.nmd.2018.03.002
Xu Y, Kang QL, Zhang ZL. A MYH3 Mutation Identified for the First Time in a Chinese Family With Sheldon-Hall Syndrome (DA2B). Neuromuscul Disord. 2018;28(5):456-462. PubMed PMID: 29625835.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A MYH3 mutation identified for the first time in a Chinese family with Sheldon-Hall syndrome (DA2B). AU - Xu,Yang, AU - Kang,Qing-Lin, AU - Zhang,Zhen-Lin, Y1 - 2018/03/08/ PY - 2017/12/20/received PY - 2018/03/01/revised PY - 2018/03/02/accepted PY - 2018/4/8/pubmed PY - 2019/10/28/medline PY - 2018/4/8/entrez KW - Distal arthrogryposis KW - MYH3 KW - Sanger sequencing KW - Sheldon-Hall syndrome KW - Whole-exome sequencing SP - 456 EP - 462 JF - Neuromuscular disorders : NMD JO - Neuromuscul Disord VL - 28 IS - 5 N2 - Sheldon-Hall syndrome is the most common type of distal arthrogryposis syndromes, also known as distal arthrogryposis 2B (DA2B). Sheldon-Hall syndrome is caused by mutations in the TPM2, TNNI2, TNNT3 or MYH3 gene and characterized by ulnar deviation, camptodactyly, overlapping fingers and scoliosis from birth. We investigated a Chinese family with multiple members who clinically presented with distal arthrogryposis of the hands. In total, 261 subjects including one proband and ten family members from the non-consanguineous Chinese family and 250 healthy volunteers were included and had their genomic DNA extracted. A novel missense mutation in exon 13 of the MYH3 gene, c.1160A > G (p.Tyr387Cys), was identified in the proband and his father through whole-exome sequencing. The proband and six affected family members were confirmed to carry this mutation by Sanger sequencing, although the mutation was not detected in the four unaffected individuals or 250 volunteers. This is the first report of a novel MYH3 mutation being identified as the cause of DA2B in a Chinese family. Our findings confirm that MYH3 gene mutations can be a pathogenic cause of DA2B in Asian patients. This study increases the mutational spectrum in MYH3 and aids genetic counseling and prenatal diagnosis. SN - 1873-2364 UR - https://www.unboundmedicine.com/medline/citation/29625835/A_MYH3_mutation_identified_for_the_first_time_in_a_Chinese_family_with_Sheldon_Hall_syndrome__DA2B__ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0960-8966(17)31537-7 DB - PRIME DP - Unbound Medicine ER -