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Case Reports
. 2007 Aug;8(8):566-9.
doi: 10.1631/jzus.2007.B0566.

A new mutation (1062 del 16) of iduronate-2-sulfatase gene from a Chinese patient with Hunter syndrome

Yi-bin Guo  1 , Jing-xin Pan, Ya-xian Meng
Affiliations
Case Reports

A new mutation (1062 del 16) of iduronate-2-sulfatase gene from a Chinese patient with Hunter syndrome

Yi-bin Guo et al. J Zhejiang Univ Sci B. 2007 Aug.

Abstract

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.

Conclusion: 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.

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Figures

Fig. 1
Fig. 1
The comparison of forward sequences in exon 7 of IDS gene (a) Normal control; (b) Father; (c) Mother; (d) Patient. The underline shows the normal sequence which contains 16 base pairs. The sequences of patient’s father and mother are the same as the normal control’s, while the patient’s sequence deletes 16 bp of “GCCTCTTGAGTGCTTT” (cDNA 1062~1077 bp)
Fig. 1
Fig. 1
The comparison of forward sequences in exon 7 of IDS gene (a) Normal control; (b) Father; (c) Mother; (d) Patient. The underline shows the normal sequence which contains 16 base pairs. The sequences of patient’s father and mother are the same as the normal control’s, while the patient’s sequence deletes 16 bp of “GCCTCTTGAGTGCTTT” (cDNA 1062~1077 bp)
Fig. 1
Fig. 1
The comparison of forward sequences in exon 7 of IDS gene (a) Normal control; (b) Father; (c) Mother; (d) Patient. The underline shows the normal sequence which contains 16 base pairs. The sequences of patient’s father and mother are the same as the normal control’s, while the patient’s sequence deletes 16 bp of “GCCTCTTGAGTGCTTT” (cDNA 1062~1077 bp)
Fig. 1
Fig. 1
The comparison of forward sequences in exon 7 of IDS gene (a) Normal control; (b) Father; (c) Mother; (d) Patient. The underline shows the normal sequence which contains 16 base pairs. The sequences of patient’s father and mother are the same as the normal control’s, while the patient’s sequence deletes 16 bp of “GCCTCTTGAGTGCTTT” (cDNA 1062~1077 bp)
Fig. 2
Fig. 2
The comparison of reverse sequences in exon 7 of IDS gene (a) Normal control; (b) Father; (c) Mother; (d) Patient. The underline shows the normal sequence which contains 16 base pairs. The sequences of patient’s father and mother are the same as the normal control’s, while the patient’s sequence deletes 16 bp of “AAAGCACTCAAGAGGC” (cDNA 1077~1062 bp)
Fig. 2
Fig. 2
The comparison of reverse sequences in exon 7 of IDS gene (a) Normal control; (b) Father; (c) Mother; (d) Patient. The underline shows the normal sequence which contains 16 base pairs. The sequences of patient’s father and mother are the same as the normal control’s, while the patient’s sequence deletes 16 bp of “AAAGCACTCAAGAGGC” (cDNA 1077~1062 bp)
Fig. 2
Fig. 2
The comparison of reverse sequences in exon 7 of IDS gene (a) Normal control; (b) Father; (c) Mother; (d) Patient. The underline shows the normal sequence which contains 16 base pairs. The sequences of patient’s father and mother are the same as the normal control’s, while the patient’s sequence deletes 16 bp of “AAAGCACTCAAGAGGC” (cDNA 1077~1062 bp)
Fig. 2
Fig. 2
The comparison of reverse sequences in exon 7 of IDS gene (a) Normal control; (b) Father; (c) Mother; (d) Patient. The underline shows the normal sequence which contains 16 base pairs. The sequences of patient’s father and mother are the same as the normal control’s, while the patient’s sequence deletes 16 bp of “AAAGCACTCAAGAGGC” (cDNA 1077~1062 bp)
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