Evidence map›Paper›PMID 32727382›Full record

ArticleBMC medical genetics2020

Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report.

Zhenzhu Zheng, Gaopin Yuan, Minyan Zheng, Yiming Lin, Faming Zheng, Mengyi Jiang, Lin Zhu, Qingliu Fu

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.6field-weighted citation impact, top 38% 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

5 citing papers in PubMed, 7 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. [Holocarboxylase synthetase deficiency induced byZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023
    Article
  5. Article
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

8 authors at 3 institutions in 1 country.

Zhenzhu ZhengNeonatal disease screening center, Quanzhou Children's Hospital, 700 Fengze Street, Quanzhou, 362000, Fujian Province, China.
Gaopin YuanNeonatal disease screening center, Quanzhou Children's Hospital, 700 Fengze Street, Quanzhou, 362000, Fujian Province, China.
Minyan ZhengNeonatal disease screening center, Quanzhou Children's Hospital, 700 Fengze Street, Quanzhou, 362000, Fujian Province, China.
Yiming LinNeonatal disease screening center, Quanzhou Children's Hospital, 700 Fengze Street, Quanzhou, 362000, Fujian Province, China.
Faming ZhengNeonatal disease screening center, Quanzhou Children's Hospital, 700 Fengze Street, Quanzhou, 362000, Fujian Province, China.
Mengyi JiangGenuine Diagnostics Company Limited, 859 Shixiang West Road, Hangzhou, 310007, Zhejiang Province, China.
Lin ZhuGenuine Diagnostics Company Limited, 859 Shixiang West Road, Hangzhou, 310007, Zhejiang Province, China. zhulin@biosan.cn.
Qingliu FuNeonatal disease screening center, Quanzhou Children's Hospital, 700 Fengze Street, Quanzhou, 362000, Fujian Province, China. zhyetyy@163.com.ORCID 0000-0001-6346-0256
Hangzhou Children's Hospital · CNDian Diagnostics (China) · CNQuzhou City People's Hospital · CN

Funding

Quanzhou Science and Technology Plan Project 2019N049S
6 · The paper itself

Abstract

backgroundHolocarboxylase synthetase (HLCS) deficiency is a rare inborn disorder of biotin metabolism, which results in defects in several biotin-dependent carboxylases and presents with metabolic ketoacidosis and skin lesions. CASE PRESENTATION: In this paper, we report a Chinese Han pedigree with HLCS deficiency diagnosed by using next-generation sequencing and validated with Sanger sequencing of the HLCS and BTD genes. The Chinese proband carries the common missense mutation c.1522C > T (p.Arg508Trp) in exon 9 of the HLCS gene, which generates an increased K

conclusionsThe Chinese proband carries the reported Arg508Trp variant, the novel 2-bp frameshift mutation c.1006_1007delGA (p.Glu336Thrfs*15), which expands the mutational spectrum of the HLCS gene, and the novel heterozygous mutation c.638_642delAACAC (p.His213Profs*4), which expands the mutational spectrum of the BTD gene. Furthermore, reversible hearing damage is rarely reported in patients with HLCS deficiency, which deserves further discussion.

Indexed as

PedigreeAmino Acid SequenceAsian PeopleBase SequenceCarbon-Nitrogen LigasesEthnicityFemaleHolocarboxylase Synthetase DeficiencyHumansInfantMaleMetabolomeMutationProtein DomainsCarbon-Nitrogen Ligasesholocarboxylase synthetasesArg508TrpCase reportFrameshift mutationHearing damageHLCS deficiency

Identifiers

PMID32727382
PMCPMC7388215
OpenAlexW3045608671

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.