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Research Article
Xiangdong Kong
First Affiliated Hospital of Zhengzhou University
Corresponding Author
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Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder that affects the degradation of branched chain amino acids (BCAAs). Only a few cases of MSUD have been documented in Mainland China. In this report, 8 patients (4 girls and 4 boys) with MSUD from 8 unrelated Chinese families were diagnosed at the age of 9 days to 1 year and 8 months. All the coding regions and exon/intron boundaries of BCKDHA, BCDKHB, DBT, DLD genes were analyzed by targeted NGS in the 8 MSUD pedigrees. Targeted NGS revealed 2 pedigrees with MSUD Ia, 5 pedigrees with Ib, 1 pedigree with MSUD II. Totally, 13 variants were detected, including 2 variants (p.Ala216Val and p.Gly281Arg) in BCKDHA gene，10 variants (p.Gly95Ala, p.Ser171Pro, p.Phe175Leu, p.Arg183Trp, p.Lys222Thr, p.Arg285Ter，p.Arg111Ter，p.S184Pfs46, p.Arg170Cys, p.I160Ffs25) in BCKDHB gene, 1 variants (p.Arg431Ter) in DBT gene. In addition, 4 previously unidentified variants (p.Gly281Arg in BCKDHA gene, p.Ser171Pro, p.Gly95Ala and p.Lys222Thr in BCKDHB gene) were found. NGS plus Sanger sequencing detection is effective and accurate for making gene diagnosis. Computational structural modeling indicated that these novel variations might affect structural stability.
Keywords
MSUD, BCAAs, BCKDHA, BCDKHB, DBT, DLD, Computational structural
Figure 1
Figure 2
No competing interests reported.
This is a list of supplementary files associated with this preprint. Click to download.
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CURRENT STATUS: Under Review
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Posted 23 Feb, 2021
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Editorial decision: Major revision
On 15 Jun, 2021
Reviews received
Received 28 May, 2021
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On 20 May, 2021
Reviewers agreed
On 11 May, 2021
Reviewers invited
Invitations sent on 14 Mar, 2021
Editor assigned
On 08 Mar, 2021
Editor invited
On 17 Feb, 2021
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Subject Areas
Obstetrics & Gynecology
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This preprint is under consideration at Scientific Reports. A preprint is a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
Learn more about In Review
Research Article
Xiangdong Kong
First Affiliated Hospital of Zhengzhou University
Corresponding Author
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
Peer Review Timeline
CURRENT STATUS: Under Review
Version 1
Posted 23 Feb, 2021
No community comments so far
Editorial decision: Major revision
On 15 Jun, 2021
Reviews received
Received 28 May, 2021
Reviewers agreed
On 20 May, 2021
Reviewers agreed
On 11 May, 2021
Reviewers invited
Invitations sent on 14 Mar, 2021
Editor assigned
On 08 Mar, 2021
Editor invited
On 17 Feb, 2021
Submission checks complete
On 17 Feb, 2021
First submitted
On 07 Feb, 2021
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Obstetrics & Gynecology
License:
This work is licensed under a CC BY 4.0 License. Read Full License
Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder that affects the degradation of branched chain amino acids (BCAAs). Only a few cases of MSUD have been documented in Mainland China. In this report, 8 patients (4 girls and 4 boys) with MSUD from 8 unrelated Chinese families were diagnosed at the age of 9 days to 1 year and 8 months. All the coding regions and exon/intron boundaries of BCKDHA, BCDKHB, DBT, DLD genes were analyzed by targeted NGS in the 8 MSUD pedigrees. Targeted NGS revealed 2 pedigrees with MSUD Ia, 5 pedigrees with Ib, 1 pedigree with MSUD II. Totally, 13 variants were detected, including 2 variants (p.Ala216Val and p.Gly281Arg) in BCKDHA gene，10 variants (p.Gly95Ala, p.Ser171Pro, p.Phe175Leu, p.Arg183Trp, p.Lys222Thr, p.Arg285Ter，p.Arg111Ter，p.S184Pfs46, p.Arg170Cys, p.I160Ffs25) in BCKDHB gene, 1 variants (p.Arg431Ter) in DBT gene. In addition, 4 previously unidentified variants (p.Gly281Arg in BCKDHA gene, p.Ser171Pro, p.Gly95Ala and p.Lys222Thr in BCKDHB gene) were found. NGS plus Sanger sequencing detection is effective and accurate for making gene diagnosis. Computational structural modeling indicated that these novel variations might affect structural stability.
Figure 1
Figure 2
No competing interests reported.
This is a list of supplementary files associated with this preprint. Click to download.
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