Evidence map›Paper›PMID 32193832›Full record

ArticleWorld journal of pediatrics : WJP2020

Identification of eight novel mutations in 11 Chinese patients with maple syrup urine disease.

Wei-Hua Sun, Bing-Bing Wu, Ya-Qiong Wang, Meng-Yuan Wu, Xin-Ran Dong, Yue-Ping Zhang, Wei Lu, Ping Zhang, Bin Yang, Min Zhang and 2 more

Abstract read
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In one paragraph

Article in World journal of pediatrics : WJP, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.0field-weighted citation impact, top 28% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed, 9 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 3 institutions in 1 country.

Wei-Hua SunInstitute of Pediatrics, Shanghai Key Laboratory of Birth Defects, Children's Hospital of Fudan University, Wanyuan Road 399, Shanghai, 201102, China.
Bing-Bing WuInstitute of Pediatrics, Shanghai Key Laboratory of Birth Defects, Children's Hospital of Fudan University, Wanyuan Road 399, Shanghai, 201102, China.
Ya-Qiong WangInstitute of Pediatrics, Shanghai Key Laboratory of Birth Defects, Children's Hospital of Fudan University, Wanyuan Road 399, Shanghai, 201102, China.
Meng-Yuan WuInstitute of Pediatrics, Shanghai Key Laboratory of Birth Defects, Children's Hospital of Fudan University, Wanyuan Road 399, Shanghai, 201102, China.
Xin-Ran DongInstitute of Pediatrics, Shanghai Key Laboratory of Birth Defects, Children's Hospital of Fudan University, Wanyuan Road 399, Shanghai, 201102, China.
Yue-Ping ZhangShanghai Ji-ai Genetics and IVF Institute, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, 200011, China.
Wei LuDepartment of Endocrinology, Children's Hospital of Fudan University, Shanghai, 201102, China.
Ping ZhangInstitute of Pediatrics, Shanghai Key Laboratory of Birth Defects, Children's Hospital of Fudan University, Wanyuan Road 399, Shanghai, 201102, China.
Bin YangDepartment of Radiology, Children's Hospital of Shanghai, Shanghai, 201102, China.
Min ZhangDepartment of Neurology, Children's Hospital of Fudan University, Shanghai, 201102, China.
Hong-Jiang WuInstitute of Pediatrics, Shanghai Key Laboratory of Birth Defects, Children's Hospital of Fudan University, Wanyuan Road 399, Shanghai, 201102, China.
Wen-Hao ZhouInstitute of Pediatrics, Shanghai Key Laboratory of Birth Defects, Children's Hospital of Fudan University, Wanyuan Road 399, Shanghai, 201102, China. zhouwenhao@fudan.edu.cn.
Children's Hospital of Fudan University · CNObstetrics and Gynecology Hospital of Fudan University · CNShanghai Children's Hospital · CN

Funding

National Key Research and Development Program of China 2016YFC0905100
6 · The paper itself

Abstract

backgroundMaple syrup urine disease (MSUD) is an autosomal recessive inherited disorder that affects the degradation of branched-chain amino acids and is associated with acute and chronic brain dysfunction. This study presents 11 new patients with MSUD and describes the clinical characteristics and gene mutations reported in Chinese individuals.

methodsDuring 2011-2018, 11 pedaitric patients with MSUD from 11 Chinese families were analyzed based on clinical characteristics and mass spectrometry, with confirmation via gene sequencing. Novel mutations affecting protein function were predicted with Mutation-Taster, PolyPhen-2, CADD and SIFT software. 3D models of the mutated proteins were generated by using the SWISS-MODEL online server, and the models were visualized in PyMOL. The characteristics and gene mutations in patients with MSUD were analyzed retrospectively.

resultsSeventeen mutations in the BCKDHA, BCKDHB and DBT genes were found, 8 of which are novel: c.55C>/T, c.349C>T, c.565C>T, c.808G>A, c.859C>G, and c.1270dupC in BCKDHA; c.275-2A>G in BCKDHB; and c.1291C>T in DBT. Eight patients died. Two patients had severe mental retardation and were physically handicapped. One patient with the intermediate type had relatively good prognosis, with mild psychomotor retardation and adiposity. Four mothers underwent amniocentesis for prenatal diagnosis during their second pregnancy; two fetuses were wild type, and two were carriers of one heterozygous mutation.

conclusionsEight novel mutations were associated with MSUD in Chinese patients. Prenatal diagnosis was successfully performed by genetic analysis. Mutations in the BCKDHB gene were found in the majority of Chinese patients with MSUD.

Indexed as

MutationAsian PeopleFemaleHumansInfantInfant, NewbornMaleMaple Syrup Urine DiseaseRetrospective StudiesBranched-chain amino acidsMaple syrup urine diseaseMutationPrenatal diagnosis

Identifiers

PMID32193832
OpenAlexW3012251252

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.