+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Mucolipidosis in a Chinese family with compound heterozygous mutations at the GNPTAB gene

Mucolipidosis in a Chinese family with compound heterozygous mutations at the GNPTAB gene

Clinica Chimica Acta; International Journal of Clinical Chemistry 412(15-16): 1469-1471

Mucopolysaccharidoses (MPS) are caused by the deficiency in the metabolism of one or more types of mucopolysaccharides or glycosaminoglycans (GAGs). Mucolipidoses (ML) are a group of genetic disorders in which both glycosaminoglycans (GAGs) and sphingolipids build up in the body. Both of MPS and ML belong to lysosomal storage diseases and show similar clinical manifestations. Distinction of these two types of diseases has not been always possible using conventional clinical diagnoses. Genetic test provides a definitive diagnosis for ML and MPS diseases. The initial clinical diagnosis had suspected the proband as either MPS or ML. To verify the clinical diagnosis, linkage analysis was performed with a panel of microsatellite markers flanking 10 candidate genetic loci for mucopolysaccharidosis and 2 loci for mucolipidosis. Two-point logarithm of odds (lod) scores was calculated using Linkage Package 5.2 program. Direct DNA sequence analyses of GNPTAB in the family members were performed. By using linkage and mutational analyses, we have identified that the family members contain compound heterozygous mutations of p.R364X and c.2715+1G>A in the GNPTAB gene. We determine the family as MLIII based on the DNA-test and clinical diagnoses. Our study confirms the pathological relationship between the patients' genotype and phenotype in the clinical ML manifestation, and suggests that DNA-based diagnosis serves as a better way to define ML and MPS.

Please choose payment method:

(PDF emailed within 0-6 h: $19.90)

Accession: 036077312

Download citation: RISBibTeXText

PMID: 21549105

DOI: 10.1016/j.cca.2011.04.025

Related references

A compound heterozygous GNPTAB mutation causes mucolipidosis II with marked hair color change in a Han Chinese baby. American Journal of Medical Genetics. Part a 155a(4): 931-934, 2011

A novel compound heterozygous mutation of GNPTAB gene underlying a case with mucolipidosis type II α/β. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 36(6): 606-609, 2019

Identification of compound heterozygous mutations in GNPTG in three siblings of a Chinese family with mucolipidosis type III gamma. Molecular Genetics and Metabolism 102(1): 107-109, 2011

Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis II alpha/beta using targeted next-generation sequencing. Genomics 102(3): 169-173, 2013

Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother. Clinical Case Reports 5(4): 431-434, 2017

Novel compound heterozygous mutations in SLC26A4 gene in a Chinese Han family with enlarged vestibular aqueduct. International Journal of Pediatric Otorhinolaryngology 90: 170-174, 2016

Novel compound heterozygous mutations in SLC26A4 gene in a Chinese family with enlarged vestibular aqueduct. Bioscience Trends 12(5): 502-506, 2018

An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies Mucolipidosis II. Molecular Genetics and Metabolism 93(2): 129-133, 2008

Novel compound heterozygous mutations identified in ADAMTSL4 gene in a Chinese family with isolated ectopia lentis. Acta Ophthalmologica 93(1): E91-E92, 2015

The novel compound heterozygous mutations, V434del and W666X, in WFS1 gene causing the Wolfram syndrome in a Chinese family. Endocrine 35(2): 151-157, 2009

Novel compound heterozygous mutations in low density lipoprotein receptor gene causes a severe phenotype in a Chinese hypercholesterolemia family. Experimental and Therapeutic Medicine 16(2): 901-907, 2018

Novel compound heterozygous mutations in MYO7A gene associated with autosomal recessive sensorineural hearing loss in a Chinese family. International Journal of Pediatric Otorhinolaryngology 83: 179-185, 2016

Compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive dopa-responsive dystonia: A case report. Medicine 97(44): E12870, 2018

Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family. Molecular Vision 16: 454-461, 2010

New compound heterozygous mutations in a Chinese family with lipoid proteinosis. British Journal of Dermatology 155(2): 470-472, 2006