Identification of compound heterozygous mutations in GNPTG in three siblings of a Chinese family with mucolipidosis type III gamma

Yong Gao; Kangjuan Yang; Shujiang Xu; Cheng Wang; Juan Liu; Zibo Zhang; Mingxiong Yuan; Xiaoping Luo; Mugen Liu; Qing K Wang; Jing Yu Liu

doi:10.1016/j.ymgme.2010.09.007

Identification of compound heterozygous mutations in GNPTG in three siblings of a Chinese family with mucolipidosis type III gamma

Mol Genet Metab. 2011 Jan;102(1):107-9. doi: 10.1016/j.ymgme.2010.09.007. Epub 2010 Sep 27.

Authors

Yong Gao¹, Kangjuan Yang, Shujiang Xu, Cheng Wang, Juan Liu, Zibo Zhang, Mingxiong Yuan, Xiaoping Luo, Mugen Liu, Qing K Wang, Jing Yu Liu

Affiliation

¹ Key Laboratory of Molecular Biophysics of the Ministry of Education, Center for Human Genome Research, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, 430074, China.

PMID: 20951619
DOI: 10.1016/j.ymgme.2010.09.007

Abstract

Mucolipidosis III gamma is an autosomal recessive disorder with defective phosphorylation and trafficking of lysosomal enzymes. In a Chinese family with three siblings, linkage analysis revealed positive linkage of the family to GNPTG. Direct DNA sequence analysis identified two novel compound heterozygous mutations, c.471delC in exon 7 and IVS4-1G>C, in three patients. The two mutations cause frameshift and abnormal splicing, respectively, and represent the first series of GNPTG mutations in the Chinese population.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Asian People
Base Sequence
Child
Female
Frameshift Mutation
Genetic Carrier Screening
Humans
Male
Molecular Sequence Data
Mucolipidoses / diagnosis
Mucolipidoses / epidemiology*
Pedigree
RNA Splicing
Siblings
Transferases (Other Substituted Phosphate Groups) / genetics*

Substances

Transferases (Other Substituted Phosphate Groups)
GNPTG protein, human