Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene.
| Title: | Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene. |
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| Authors: | Liang, Yingjun1 (AUTHOR), Gao, Xiaolan1 (AUTHOR), Lu, Deyun1 (AUTHOR), Zhang, Huiwen1 (AUTHOR) zhanghuiwen@xinhuamed.com.cn, Zhang1 (AUTHOR) |
| Source: | Metabolic Brain Disease. Aug2023, Vol. 38 Issue 6, p2013-2023. 11p. |
| Subject Terms: | *GENETIC variation, *SANFILIPPO syndrome, *MUCOPOLYSACCHARIDOSIS, *LYSOSOMAL storage diseases, *WHOLE genome sequencing |
| Abstract: | Background: Mucopolysaccharidosis type IIIC (MPS IIIC; Sanfilippo syndrome C) is a rare lysosomal storage disease caused by mutations in the heparan-α-glucosaminide N-acetyltransferase (HGSNAT) gene, resulting in the accumulation of heparan sulfate. MPS IIIC is characterized by severe neuropsychiatric symptoms and mild somatic symptoms. Methods: Our study analyzed the clinical presentation and biochemical characteristics of ten Chinese MPS IIIC patients from eight families. Whole exome sequencing was applied to identify the variants in HGSNAT gene. In one patient with only one mutant allele identified firstly, whole genome sequencing was applied. The pathogenic effect of novel variants was evaluated in silico. Results: The mean age at the onset of clinical symptoms was 4.2 ± 2.5 years old, and the mean age of diagnosis was 7.6 ± 4.5 years old, indicating a delay of diagnosis. The most common onset symptoms were speech deterioration, and the most frequent presenting symptoms are speech deterioration, mental deterioration, hyperactivity and hepatomegaly, sequentially. All mutant alleles of 10 patients have been identified. There were eleven different HGSNAT variants, and the most common one was a previously reported variant c.493 + 1G > A. There were six novel variants, p.R124T, p.G290A, p.G426E, c.743 + 101_743 + 102delTT, c.851 + 171T > A and p.V582Yfs*18 in our cohort. Extraordinarily, two deep intron variants were identified in our cohort, with the variant c.851 + 171T > A identified by whole genome sequencing. Conclusion: This study analyzed the clinical, biochemical, and genetic characteristics of ten Chinese MPS IIIC patients, which would assist in the early diagnosis and genetic counselling of MPS IIIC. [ABSTRACT FROM AUTHOR] |
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| Items | – Name: Title Label: Title Group: Ti Data: Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Liang%2C+Yingjun%22">Liang, Yingjun</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Gao%2C+Xiaolan%22">Gao, Xiaolan</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lu%2C+Deyun%22">Lu, Deyun</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Zhang%2C+Huiwen%22">Zhang, Huiwen</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> zhanghuiwen@xinhuamed.com.cn</i><br /><searchLink fieldCode="AR" term="%22Zhang%22">Zhang</searchLink><relatesTo>1</relatesTo> (AUTHOR) – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Metabolic+Brain+Disease%22">Metabolic Brain Disease</searchLink>. Aug2023, Vol. 38 Issue 6, p2013-2023. 11p. – Name: Subject Label: Subject Terms Group: Su Data: *<searchLink fieldCode="DE" term="%22GENETIC+variation%22">GENETIC variation</searchLink><br />*<searchLink fieldCode="DE" term="%22SANFILIPPO+syndrome%22">SANFILIPPO syndrome</searchLink><br />*<searchLink fieldCode="DE" term="%22MUCOPOLYSACCHARIDOSIS%22">MUCOPOLYSACCHARIDOSIS</searchLink><br />*<searchLink fieldCode="DE" term="%22LYSOSOMAL+storage+diseases%22">LYSOSOMAL storage diseases</searchLink><br />*<searchLink fieldCode="DE" term="%22WHOLE+genome+sequencing%22">WHOLE genome sequencing</searchLink> – Name: Abstract Label: Abstract Group: Ab Data: Background: Mucopolysaccharidosis type IIIC (MPS IIIC; Sanfilippo syndrome C) is a rare lysosomal storage disease caused by mutations in the heparan-α-glucosaminide N-acetyltransferase (HGSNAT) gene, resulting in the accumulation of heparan sulfate. MPS IIIC is characterized by severe neuropsychiatric symptoms and mild somatic symptoms. Methods: Our study analyzed the clinical presentation and biochemical characteristics of ten Chinese MPS IIIC patients from eight families. Whole exome sequencing was applied to identify the variants in HGSNAT gene. In one patient with only one mutant allele identified firstly, whole genome sequencing was applied. The pathogenic effect of novel variants was evaluated in silico. Results: The mean age at the onset of clinical symptoms was 4.2 ± 2.5 years old, and the mean age of diagnosis was 7.6 ± 4.5 years old, indicating a delay of diagnosis. The most common onset symptoms were speech deterioration, and the most frequent presenting symptoms are speech deterioration, mental deterioration, hyperactivity and hepatomegaly, sequentially. All mutant alleles of 10 patients have been identified. There were eleven different HGSNAT variants, and the most common one was a previously reported variant c.493 + 1G > A. There were six novel variants, p.R124T, p.G290A, p.G426E, c.743 + 101_743 + 102delTT, c.851 + 171T > A and p.V582Yfs*18 in our cohort. Extraordinarily, two deep intron variants were identified in our cohort, with the variant c.851 + 171T > A identified by whole genome sequencing. Conclusion: This study analyzed the clinical, biochemical, and genetic characteristics of ten Chinese MPS IIIC patients, which would assist in the early diagnosis and genetic counselling of MPS IIIC. [ABSTRACT FROM AUTHOR] – Name: AbstractSuppliedCopyright Label: Group: Ab Data: <i>Copyright of Metabolic Brain Disease is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.) |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s11011-023-01204-8 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 11 StartPage: 2013 Subjects: – SubjectFull: GENETIC variation Type: general – SubjectFull: SANFILIPPO syndrome Type: general – SubjectFull: MUCOPOLYSACCHARIDOSIS Type: general – SubjectFull: LYSOSOMAL storage diseases Type: general – SubjectFull: WHOLE genome sequencing Type: general Titles: – TitleFull: Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Liang, Yingjun – PersonEntity: Name: NameFull: Gao, Xiaolan – PersonEntity: Name: NameFull: Lu, Deyun – PersonEntity: Name: NameFull: Zhang, Huiwen – PersonEntity: Name: NameFull: Zhang IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 08 Text: Aug2023 Type: published Y: 2023 Identifiers: – Type: issn-print Value: 08857490 Numbering: – Type: volume Value: 38 – Type: issue Value: 6 Titles: – TitleFull: Metabolic Brain Disease Type: main |
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