Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosisopen access
- Authors
- Yang, Mina; Cho, Sung Yun; Park, Hyung-Doo; Choi, Rihwa; Kim, Young Eun; Kim, Jinsup; Lee, Soo-Youn; Ki, Chang-Seok; Kim, Jong-Won; Sohn, Young Bae; Song, Junghan; Jin, Dong-Kyu
- Issue Date
- Jan-2017
- Publisher
- BioMed Central
- Keywords
- GNPTAB; Lysosomal storage disease; Mucolipidosis; Prenatal diagnosis
- Citation
- Orphanet Journal of Rare Diseases, v.12, pp.1 - 10
- Indexed
- SCIE
SCOPUS
- Journal Title
- Orphanet Journal of Rare Diseases
- Volume
- 12
- Start Page
- 1
- End Page
- 10
- URI
- https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/153012
- DOI
- 10.1186/s13023-016-0556-2
- ISSN
- 1750-1172
- Abstract
- Background: Mucolipidosis types II and III (ML II/III) are autosomal recessive disorders caused by a deficiency in the lysosomal enzyme N-acetylglucosamine-1-phosphotransferase. We investigated the molecular genetic characteristics of the GNPTAB gene, which codes for the alpha/beta subunits of a phosphotransferase, in Korean ML II/III patients. We included prenatal tests and evaluated the spectrum of mutations in East Asian populations with ML II/III through a literature review.
Methods: Seven patients from six families were enrolled in the study including two prenatal tests using chorionic villi samples. A diagnosis of ML II/III was made based on clinical findings and increases in serum lysosomal enzyme levels. PCR and direct sequencing were performed to identify GNPTAB mutations.
Results: We found 14 mutant alleles including seven known mutations of c.2189delT (p.Leu730fs* 7), c.1090C ˃ T (p.Arg364*), c.2681G ˃ A (p.Trp894*), c.3565C ˃ T (p.Arg1189*), c.310C ˃ T (p.Gln104*), c.1071G ˃ A (p.Trp357*) and c.2574_2575delGA (p.Asn859Glnfs* 2). Four were novel variants of unknown significance: c.992A ˃ G (p.Tyr331Cys), c. 666 T ˃ A (p.Leu889*), c.637-6 T ˃ G (p.Thr213Phefs* 11), and c.471_472delTT (p.Tyr158Serfs* 8). Family studies revealed the probands to be compound heterozygotes. The fetuses carried the same GNPTAB mutations as the mucolipidosis II/III probands in the prenatal diagnosis.
Conclusions: We identified GNPTAB mutations in all patients with ML II/III, but did not identify a hot spot in Korean patients. We successfully performed prenatal diagnosis using molecular investigation.
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