A novel compound heterozygous mutation of GNPTAB gene underlying a case with mucolipidosis type II α/β.
10.3760/cma.j.issn.1003-9406.2019.06.019
- VernacularTitle:新复合杂合突变导致的黏脂贮积症Ⅱα/β患儿一例
- Author:
Ke YANG
1
;
Guiyu LOU
;
Na QI
;
Yuwei ZHANG
;
Hongjie ZHU
;
Li WANG
;
Xijuan WANG
;
Bing ZHANG
Author Information
1. Medical Genetics Institute of Henan Province, People's Hospital, Zhengzhou University, Zhengzhou, Henan 450003, China. Email: 1004946490@qq.com.
- Publication Type:Case Reports
- MeSH:
Female;
High-Throughput Nucleotide Sequencing;
Humans;
Mucolipidoses;
genetics;
Mutation;
Transferases (Other Substituted Phosphate Groups);
genetics
- From:
Chinese Journal of Medical Genetics
2019;36(6):606-609
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the clinical features and genetic mutations in a patient with mucolipidosis type II α/β by using next generation sequencing.
METHODS:Clinical data of the patient was collected. Genomic DNA of the patient and her parents was extracted by a standard method. The patient was subjected to targeted sequencing using an Ion Ampliseq panel, which included genes related to mucolipidosis and mucopolysaccharidosis. Suspected mutations were verified by Sanger sequencing.
RESULTS:Compound heterozygous mutations, namely c.1284+1G>T and c.1090C>T (p.Arg364*), were detected in the patient, which were respectively inherited from her mother and father. No other disease-causing mutation was detected in the patient. GNPTAB c.1090C>T was known to be pathogenic, while GNPTAB c.1284+1G>T is a novel mutation. The same mutations were not detected among 50 healthy controls.
CONCLUSION:The compound heterozygous mutations c.1284+1G>T and c.1090C>T (p.Arg364*) of GNPTAB gene probably account for the mucolipidosis type II α/β in the patient. NGS has a great value for the molecular diagnosis and typing of mucolipidosis.
