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.
Gao
Yong
Y
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.
Yang
Kangjuan
K
Xu
Shujiang
S
Wang
Cheng
C
Liu
Juan
J
Zhang
Zibo
Z
Yuan
Mingxiong
M
Luo
Xiaoping
X
Liu
Mugen
M
Wang
Qing K
QK
Liu
Jing Yu
JY
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