Tags

Type your tag names separated by a space and hit enter

Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II.
Clin Genet 2012; 81(2):185-90CG

Abstract

Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is a rare lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS). As MPS II is X-linked, patients are usually males with heterogeneous mutations ranging from point mutations to gross deletions and recombination. In 2003, we reported a mutation analysis of 25 patients with MPS II. In this study, 31 mutations in another 49 Korean patients (45 families) with MPS II are reported: 12 missense, nine deletions, four splicing, two nonsense, two insertions, one deletion/insertion, and IDS-IDS2 recombination mutations. Among these mutations, 11 were novel ones (4 missense mutations: Ser61Pro, Pro97Arg, Pro228Ala, and Pro261Ala; 5 deletions: c.344delA, c.420delG, c.768delT, c.1112delC and c.1402delC; 1 deletion/insertion: c.1222delinsTA; and 1 insertion mutation: c.359_360insATCC). The IDS-IDS2 recombination mutations were most frequently observed; all patients with this mutation had the severe MPS II phenotype. However, most of the patients (5/7) with the G374G splicing mutation had an attenuated phenotype, except for two sibling cases with the severe phenotype. Except for a few recurrent mutations such as the G374G, R443X, L522P, and recombination mutations, each patient had a unique individual mutation. Therefore, careful interpretation of genotype-phenotype correlations is warranted.

Authors+Show Affiliations

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

21291454

Citation

Sohn, Y B., et al. "Identification of 11 Novel Mutations in 49 Korean Patients With Mucopolysaccharidosis Type II." Clinical Genetics, vol. 81, no. 2, 2012, pp. 185-90.
Sohn YB, Ki CS, Kim CH, et al. Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II. Clin Genet. 2012;81(2):185-90.
Sohn, Y. B., Ki, C. S., Kim, C. H., Ko, A. R., Yook, Y. J., Lee, S. J., ... Jin, D. K. (2012). Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II. Clinical Genetics, 81(2), pp. 185-90. doi:10.1111/j.1399-0004.2011.01641.x.
Sohn YB, et al. Identification of 11 Novel Mutations in 49 Korean Patients With Mucopolysaccharidosis Type II. Clin Genet. 2012;81(2):185-90. PubMed PMID: 21291454.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II. AU - Sohn,Y B, AU - Ki,C-S, AU - Kim,C-H, AU - Ko,A-R, AU - Yook,Y-J, AU - Lee,S-J, AU - Kim,S J, AU - Park,S W, AU - Yeau,S, AU - Kwon,E-K, AU - Han,S J, AU - Choi,E W, AU - Lee,S-Y, AU - Kim,J-W, AU - Jin,D-K, Y1 - 2011/02/24/ PY - 2011/2/5/entrez PY - 2011/2/5/pubmed PY - 2012/5/9/medline SP - 185 EP - 90 JF - Clinical genetics JO - Clin. Genet. VL - 81 IS - 2 N2 - Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is a rare lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS). As MPS II is X-linked, patients are usually males with heterogeneous mutations ranging from point mutations to gross deletions and recombination. In 2003, we reported a mutation analysis of 25 patients with MPS II. In this study, 31 mutations in another 49 Korean patients (45 families) with MPS II are reported: 12 missense, nine deletions, four splicing, two nonsense, two insertions, one deletion/insertion, and IDS-IDS2 recombination mutations. Among these mutations, 11 were novel ones (4 missense mutations: Ser61Pro, Pro97Arg, Pro228Ala, and Pro261Ala; 5 deletions: c.344delA, c.420delG, c.768delT, c.1112delC and c.1402delC; 1 deletion/insertion: c.1222delinsTA; and 1 insertion mutation: c.359_360insATCC). The IDS-IDS2 recombination mutations were most frequently observed; all patients with this mutation had the severe MPS II phenotype. However, most of the patients (5/7) with the G374G splicing mutation had an attenuated phenotype, except for two sibling cases with the severe phenotype. Except for a few recurrent mutations such as the G374G, R443X, L522P, and recombination mutations, each patient had a unique individual mutation. Therefore, careful interpretation of genotype-phenotype correlations is warranted. SN - 1399-0004 UR - https://www.unboundmedicine.com/medline/citation/21291454/Identification_of_11_novel_mutations_in_49_Korean_patients_with_mucopolysaccharidosis_type_II_ L2 - https://doi.org/10.1111/j.1399-0004.2011.01641.x DB - PRIME DP - Unbound Medicine ER -