A new mutation (1062 del 16) of iduronate-2-sulfatase gene from a Chinese patient with Hunter syndrome.
OBJECTIVE
To identify the mutations of iduronate-2-sulfatase (IDS) gene, to reveal its mutation features, and to establish a basis for genetic counseling and prenatal gene diagnosis of Hunter syndrome.


METHODS
Urine glycosaminoglycans (GAGs) assay, PCR and DNA sequencing were performed to detect mutation of IDS gene of the patient and his parents.


RESULTS
The result showed that the patient was: DS(++), HS(++), KS(-), CS(-), and that both of his parents were negative. A frame-shift deletion mutation (1062 del 16) was identified in exon 7 of the patient's IDS gene. His parents' genotypes were normal.


CONCLUSIONS
The patient's mutation was not inherited by his parents but a novel one. The mutation probably altered the primary structure and tertiary structure of IDS enzyme protein remarkably and lowered the activity of IDS enzyme greatly. Therefore it is supposed to be the direct cause of the disorder.
Department of Medical Genetics, Sun Yat-sen Medical College, Sun Yat-sen University, Guangzhou 510080, China. guoyibin@mail.sysu.edu.cn
Yi-bin
YB
Guo
Jing-xin
JX
Pan
Ya-xian
YX
Meng
D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002675:Child, Preschool; D005260:Female; D006023:Glycoproteins / Q000235:genetics* / Q000652:urine; D006801:Humans; D008297:Male; D016532:Mucopolysaccharidosis II / Q000201:enzymology* / Q000235:genetics* / Q000652:urine; D009154:Mutation / Q000235:genetics
D006023:Glycoproteins; C018322:IDS protein, human