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Recognition of matu...
Recognition of maturity-onset diabetes of the young in China
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- Liang, Hua (författare)
- Third Affiliated Hospital of Sun Yat‐sen University
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- Zhang, Yanan (författare)
- Third Affiliated Hospital of Sun Yat‐sen University
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- Li, Maixinyue (författare)
- Nanning Children’s Hospital
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- Yan, Jinhua (författare)
- Third Affiliated Hospital of Sun Yat‐sen University
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- Yang, Daizhi (författare)
- Third Affiliated Hospital of Sun Yat‐sen University
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- Luo, Sihui (författare)
- University of Science and Technology of China
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- Zheng, Xueying (författare)
- University of Science and Technology of China
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- Yang, Guoqing (författare)
- General Hospital of People's Liberation Army
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- Li, Zhuo (författare)
- Third Affiliated Hospital of Sun Yat‐sen University
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- Xu, Wen (författare)
- Third Affiliated Hospital of Sun Yat‐sen University
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- Groop, Leif (författare)
- Lund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups
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- Weng, Jianping (författare)
- Third Affiliated Hospital of Sun Yat‐sen University
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(creator_code:org_t)
- 2020-09-09
- 2021
- Engelska.
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Ingår i: Journal of Diabetes Investigation. - : Wiley. - 2040-1116 .- 2040-1124. ; 12:4, s. 501-509
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http://dx.doi.org/10... (free)
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https://onlinelibrar...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Ämnesord
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- Aims/Introduction: Given that mutations related to maturity-onset diabetes of the young (MODY) are rarely found in Chinese populations, we aim to characterize the mutation spectrum of MODY pedigrees. Materials and Methods: Maturity-onset diabetes of the young candidate gene- or exome-targeted capture sequencing was carried out in 76 probands from unrelated families fulfilling the clinical diagnostic criteria for MODY. MAF <0.01 in the GnomAD or ExAC database was used to filter significant variants. Sanger sequencing was then carried out to validate findings. Function prediction by SIFT, PolyPhen-2 and PROVEAN or CADD was carried out in missense mutations. Results: A total of 32 mutations in six genes were identified in 31 families, accounting for 40.79% of the potential MODY families. The MODY subtype detection rate was 18.42% for GCK, 15.79% for HNF1A, 2.63% for HNF4A, and 1.32% for KLF11, PAX4 and NEUROG3. Seven nonsense/frameshift mutations and four missense mutations with damaging prediction were newly identified novel mutations. The clinical features of MODY2, MODY3/1 and MODYX are similar to previous reports. Clinical phenotype of NEUROG3 p.Arg55Glufs*23 is characterized by hyperglycemia and mild intermittent abdominal pain. Conclusions: This study adds to the emerging pattern of MODY epidemiology that the proportion of MODY explained by known pathogenic genes is higher than that previously reported, and found NEUROG3 as a new causative gene for MODY.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)
Nyckelord
- Chinese
- Maturity-onset diabetes of the young
- Pathogenic genes
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- ref (ämneskategori)
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- Av författaren/redakt...
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Liang, Hua
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Zhang, Yanan
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Li, Maixinyue
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Yan, Jinhua
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Yang, Daizhi
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Luo, Sihui
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visa fler...
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Zheng, Xueying
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Yang, Guoqing
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Li, Zhuo
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Xu, Wen
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Groop, Leif
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Weng, Jianping
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visa färre...
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Lunds universitet