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- Title
Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis.
- Authors
Mina Yang; Sung Yun Cho; Hyung-Doo Park; Rihwa Choi; Young-Eun Kim; Jinsup Kim; Soo-Youn Lee; Chang-Seok Ki; Jong-Won Kim; Young Bae Sohn; Junghan Song; Dong-Kyu Jin; Yang, Mina; Cho, Sung Yun; Park, Hyung-Doo; Choi, Rihwa; Kim, Young-Eun; Kim, Jinsup; Lee, Soo-Youn; Ki, Chang-Seok
- Abstract
<bold>Background: </bold>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.<bold>Methods: </bold>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.<bold>Results: </bold>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.2666 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.<bold>Conclusions: </bold>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.
- Subjects
KOREA; PRENATAL diagnosis; AUTOSOMAL recessive polycystic kidney; MOLECULAR genetics; LYSOSOMAL storage diseases; GENETIC carriers; INBORN errors of metabolism diagnosis; INBORN errors of metabolism; GENETIC mutation; POLYMERASE chain reaction; TRANSFERASES; PHENOTYPES; GENOTYPES
- Publication
Orphanet Journal of Rare Diseases, 2017, Vol 12, p1
- ISSN
1750-1172
- Publication type
journal article
- DOI
10.1186/s13023-016-0556-2