Identification of compound heterozygous mutations in GNPTG in three siblings of a Chinese family with mucolipidosis type III gamma.
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.
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.
Yong
Y
Gao
Kangjuan
K
Yang
Shujiang
S
Xu
Cheng
C
Wang
Juan
J
Liu
Zibo
Z
Zhang
Mingxiong
M
Yuan
Xiaoping
X
Luo
Mugen
M
Liu
Qing K
QK
Wang
Jing Yu
JY
Liu
D000293:Adolescent; D044466:Asian People; D001483:Base Sequence; D002648:Child; D005260:Female; D016368:Frameshift Mutation; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009081:Mucolipidoses / Q000175:diagnosis / Q000453:epidemiology*; D010375:Pedigree; D012326:RNA Splicing; D035781:Siblings; D017855:Transferases (Other Substituted Phosphate Groups) / Q000235:genetics*
D017855:Transferases (Other Substituted Phosphate Groups); C504791:GNPTG protein, human