Evidence map›Paper›PMID 38373926›Full record

ArticleBMC pediatrics2024

Sex-specific difference in phenotype of Kabuki syndrome type 2 patients: a matched case-control study.

Yirou Wang, Yufei Xu, Yao Chen, Yabin Hu, Qun Li, Shijian Liu, Jian Wang, Xiumin Wang

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

Article in BMC pediatrics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
1.1field-weighted citation impact, top 22% 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

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Article
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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.

Yirou Wang *Department of Endocrinology and Metabolism, Shanghai Children's Medical Center,, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Yufei Xu *Department of NeurologySchool of Medicine, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Yao ChenDepartment of Endocrinology and Metabolism, Shanghai Children's Medical Center,, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Yabin HuChildren Health Advocacy Institute, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Qun LiDepartment of Endocrinology and Metabolism, Shanghai Children's Medical Center,, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Shijian LiuChildren Health Advocacy Institute, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Jian WangDepartment of NeurologySchool of Medicine, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Xiumin WangDepartment of Endocrinology and Metabolism, Shanghai Children's Medical Center,, School of Medicine, Shanghai Jiao Tong University, Shanghai, China. wangxiumin@scmc.com.cn.
Shanghai Children's Medical Center · CNShanghai Jiao Tong University · CN

Funding

Jin Lei Pediatric Endocrinology Growth Research Fund for Young Physicians NO. PEGRF201809004
6 · The paper itself

Abstract

backgroundKabuki syndrome (KS) is a monogenic disorder leading to special facial features, mental retardation, and multiple system malformations. Lysine demethylase 6A, (KDM6A, MIM*300128) is the pathogenic gene of Kabuki syndrome type 2 (KS2, MIM#300867), which accounts for only 5%-8% of KS. Previous studies suggested that female patients with KS2 may have a milder phenotype.

methodWe summarized the phenotype and genotype of KS2 patients who were diagnosed in Shanghai Children's Medical Center since July 2017 and conducted a 1:3 matched case-control study according to age and sex to investigate sex-specific differences between patients with and without KS2.

resultsThere were 12 KS2 cases in this study, and 8 of them matched with 24 controls. The intelligence quotient (IQ) score of the case group was significantly lower than that of the control group (P < 0.001). In addition, both the incidence of intellectual disability (ID) (IQ < 70) and moderate-to-severe ID (IQ < 55) were significantly higher in the case group than those in the control group. No sex-specific difference was found in the incidence of ID or moderate-to-severe ID between the female cases and female controls, whereas there was a significant difference between male cases and male controls. Furthermore, the rate of moderate-to-severe ID and congenital heart disease (CHD) was significantly higher in the male group than that in the female group.

conclusionsOur results showed that a sex-specific difference was exhibited in the clinical phenotypes of KS2 patients. The incidence of CHD was higher in male patients, and mental retardation was significantly impaired. However, the female patients' phenotype was mild.

Indexed as

Abnormalities, MultipleHeart Defects, CongenitalHematologic DiseasesIntellectual DisabilityVestibular DiseasesCase-Control StudiesChildChinaFaceFemaleHumansMaleMutationPhenotypeKabuki syndrome type 2KDM6ASevere intellectual disabilitySex-specific difference

Identifiers

PMID38373926
PMCPMC10875883
OpenAlexW4391932319

What OpenQuestion holds

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LicenceCC BY
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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.