Evidence map›Paper›PMID 27688808›Full record

ArticleMolecular cytogenetics2016

19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome.

Hai-Yun Dong, Hui Zeng, Yi-Qiao Hu, Li Xie, Jian Wang, Xiu-Ying Wang, Yi-Feng Yang, Zhi-Ping Tan

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

Article in Molecular cytogenetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
2.1field-weighted citation impact, top 11% 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

6 citing papers in PubMed, 10 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

8 authors at 2 institutions in 1 country.

Hai-Yun DongIntensive Care Unit, Central South University, Changsha, Hunan Province 410011 China.
Hui ZengClinical Center for Gene Diagnosis and Therapy of State Key Laboratory of Medical Genetics, The Second Xiangya Hospital of Central South University, 139# Renmin Road, Changsha, Hunan 410011 China ; Department of Cardiothoracic Surgery, Central South University, Changsha, Hunan Province 410011 China.
Yi-Qiao HuThe State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan Province 410011 China.
Li XieClinical Center for Gene Diagnosis and Therapy of State Key Laboratory of Medical Genetics, The Second Xiangya Hospital of Central South University, 139# Renmin Road, Changsha, Hunan 410011 China ; Department of Cardiothoracic Surgery, Central South University, Changsha, Hunan Province 410011 China.
Jian WangClinical Center for Gene Diagnosis and Therapy of State Key Laboratory of Medical Genetics, The Second Xiangya Hospital of Central South University, 139# Renmin Road, Changsha, Hunan 410011 China ; Department of Cardiothoracic Surgery, Central South University, Changsha, Hunan Province 410011 China.
Xiu-Ying WangDepartment of Pediatrics, the Second Xiangya Hospital, Central South University, Changsha, Hunan Province 410011 China.
Yi-Feng YangClinical Center for Gene Diagnosis and Therapy of State Key Laboratory of Medical Genetics, The Second Xiangya Hospital of Central South University, 139# Renmin Road, Changsha, Hunan 410011 China ; Department of Cardiothoracic Surgery, Central South University, Changsha, Hunan Province 410011 China.
Zhi-Ping TanClinical Center for Gene Diagnosis and Therapy of State Key Laboratory of Medical Genetics, The Second Xiangya Hospital of Central South University, 139# Renmin Road, Changsha, Hunan 410011 China ; Department of Cardiothoracic Surgery, Central South University, Changsha, Hunan Province 410011 China.
Central South University · CNSecond Xiangya Hospital of Central South University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundOvergrowth syndromes represent clinically and genetically heterogeneous conditions characterized by a wide spectrum of malformations, tall stature, intellectual disability and/or macrocephaly.

resultsIn a cohort of four clinically characterized patients with overgrowth syndrome without known causative gene mutation, we performed an Illumina SNP-array analysis to identify the pathogenic copy number variations. We identified two rare copy number variations harboring overgrowth syndrome related genes. Patient 1 was Malan syndrome with a 1.4 Mb 19p13.2-13.13 microdeletion including NFIX, and Patient 2 was identified as Sotos syndrome with a 1.6 Mb 5q35.2 microdeletion encompassing NSD1.

conclusionsWe identified two patients associated with Manlan syndrome and Sotos syndrome respectively. We also discuss the use of the microarrays-based candidate gene strategy in Mendelian disease-gene identification.

Indexed as

Deletion 19p13.2-13.13Deletion 5q35.2Epigenetic diseasesMicroarrays-based candidate gene strategyNSD1SNP-array

Identifiers

PMID27688808
PMCPMC5034553
OpenAlexW2521506492

What OpenQuestion holds

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Registered trials

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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.