Molecular diagnosis of a Chinese pedigree with α-mannosidosis and identification of a novel missense mutation
-
Xiaoyun Wu
,
Chunmiao Guo
Abstract
α-Mannosidosis storage disease is a rare autosomal recessive disease that is caused by a deficiency of the lysosomal enzyme α-mannosidase. In this article, a proband in China was preliminarily diagnosed as having α-mannosidosis by clinical symptoms, imaging examination, and enzyme assay. Definitive diagnosis was performed by directly sequencing the MAN2B1 gDNA and cDNA of the peripheral blood leukocyte from the patient. Finally, denaturing high-performance liquid chromatography screening, conservative analysis, and protein secondary structure prediction were used to identify the novel mutation. The results showed that the patient has compound heterozygous mutations in the MAN2B1 gene, c.856G>A (p.E286K, novel) and c.788C>T (p.P263L). Her parents are heterozygote that carry one of these two mutations respectively. Pathogenicity identification of the novel mutation showed that the p.E286K mutation is a disease-causing mutation. Our work enriches the human MAN2B1 gene mutation database. As far as we know, this research is thus far the first gene diagnosis case of a Chinese patient with α-mannosidosis.
Acknowledgments
The authors are grateful to the patients and their families for their participation in this study. We thank Dr. Xiaoyuan Zhao for helping in the enzyme activity assay for the patient. This work was supported by the National Natural Science Foundation of China grant no. 30772069 and Fujian and Guangdong cooperation projects fund no. 7101025.
Conflict of interest
The authors have declared that no conflict of interest exists.
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©2014 by Walter de Gruyter Berlin/Boston
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Articles in the same Issue
- Frontmatter
- Original articles
- Assessment of hearing in children with type 1 diabetes mellitus
- Insulin resistance and lipid profiles in HIV-infected Thai children receiving lopinavir/ritonavir-based highly active antiretroviral therapy
- Increased hunger and speed of eating in obese children and adolescents
- Glucagon and insulin cord blood levels in very preterm, late preterm and full-term infants
- Thyroid function in late preterm infants in relation to mode of delivery and respiratory support
- Prevalence of vitamin D deficiency and its related factors in children and adolescents living in North Khorasan, Iran
- Asymmetric dimethyl L-arginine, nitric oxide and cardiovascular disease in adolescent type 1 diabetics
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- Serum uric acid: relationships with biomarkers in adolescents and changes over 1 year
- Psychological impact on parents of children with congenital adrenal hyperplasia: a study from Sri Lanka
- Investigation of adropin and leptin levels in pediatric obesity-related nonalcoholic fatty liver disease
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- Molecular diagnosis of a Chinese pedigree with α-mannosidosis and identification of a novel missense mutation
- Are the characteristics of thyroid cancer different in young patients?
- Unsaturated fatty acids and insulin resistance in childhood obesity
- Effect of genetic subtypes and growth hormone treatment on bone mineral density in Prader-Willi syndrome
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- A novel activating ABCC8 mutation underlying neonatal diabetes mellitus in an infant presenting with cerebral sinovenous thrombosis
- Endocrinological anomalies in a patient with 12q14 microdeletion syndrome. Completing phenotype of this exceptional short stature condition
- Acute mental status change as the presenting feature of adrenal insufficiency in a patient with autoimmune polyglandular syndrome type II and stroke
- Effect of ethosuximide on cortisol metabolism in the treatment of congenital adrenal hyperplasia
- Absence of WNT4 gene mutation in a patient with MURCS association
- Identification of a novel insulin receptor gene heterozygous mutation in a patient with type A insulin resistance syndrome
- Adrenal insufficiency in association with congenital nephrotic syndrome: a case report
- Diabetic lipemia presenting as eruptive xanthomas in a child with autoimmune polyglandular syndrome type IIIa
- A case report of nephrogenic diabetes insipidus with idiopathic Fanconi syndrome in a child who presented with vitamin D resistant rickets
- Letter to the Editor
- Hyperbilirubinemia in neonates of diabetic mothers: an indirect biomarker of organ damage?
