Evidence map›Paper›PMID 40146326›Full record

ArticleEuropean journal of pediatrics2025

Clinical delineation and genotype-phenotype correlation in 104 children with kabuki syndrome: A single-center, cross-sectional and follow-up study in China.

Yirou Wang, Feihan Hu, Xueqiong Xu, Jun Tan, Tingting Yu, Niu Li, Qian Li, Yao Chen, Guoying Chang, Xiuqi Ma and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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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

1 citing paper in PubMed.

  1. Review
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.

Yirou Wang *Department of Endocrinology, Genetics and Metabolism, Shanghai Children'S Medical Center, School of Medicine, Shanghai Jiao Tong University, 1678 Dongfang Road, Shanghai, 200127, China.
Feihan Hu *Department of Endocrinology, Genetics and Metabolism, Shanghai Children'S Medical Center, School of Medicine, Shanghai Jiao Tong University, 1678 Dongfang Road, Shanghai, 200127, China.
Xueqiong XuDepartment of Endocrinology, Genetics and Metabolism, Shanghai Children'S Medical Center, School of Medicine, Shanghai Jiao Tong University, 1678 Dongfang Road, Shanghai, 200127, China.
Jun TanDepartment of Endocrinology, Genetics and Metabolism, Shanghai Children'S Medical Center Guizhou Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 550081, GuiZhou, China.
Tingting YuDepartment of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children'S Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Niu LiDepartment of Reproductive Genetics, School of Medicine, The International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University, Shanghai, 200030, China.
Qian LiDepartment of Oncology, Shanghai Children'S Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
Yao ChenDepartment of Endocrinology, Genetics and Metabolism, Shanghai Children'S Medical Center, School of Medicine, Shanghai Jiao Tong University, 1678 Dongfang Road, Shanghai, 200127, China.
Guoying ChangDepartment of Endocrinology, Genetics and Metabolism, Shanghai Children'S Medical Center, School of Medicine, Shanghai Jiao Tong University, 1678 Dongfang Road, Shanghai, 200127, China.
Xiuqi MaDepartment of Endocrinology, Genetics and Metabolism, Shanghai Children'S Medical Center Guizhou Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 550081, GuiZhou, China.
Ding YuDepartment of Endocrinology, Genetics and Metabolism, Shanghai Children'S Medical Center, School of Medicine, Shanghai Jiao Tong University, 1678 Dongfang Road, Shanghai, 200127, China.
Xiumin WangDepartment of Endocrinology, Genetics and Metabolism, Shanghai Children'S Medical Center, School of Medicine, Shanghai Jiao Tong University, 1678 Dongfang Road, Shanghai, 200127, China. wangxiumin1019@126.com.

Funding

2024-National Clinical Key Specialty Construction Project No.10000015Z155080000004National Key Research and Development Program of China 2022YFC2703102National Nature Science Foundation of China 82170190Shanghai Clinical Medical Research Center for children's rare diseases 20MC1920400
6 · The paper itself

Abstract

This study provides a detailed genotype and phenotype analysis of a large longitudinal cohort of Kabuki Syndrome (KS) from a single center in China. From July 2017 to July 2024, participants were enrolled at Shanghai Children's Medical Center. Variants in KMT2D or KDM6A were identified through whole exome sequencing. Phenotype data included prenatal and perinatal history, neonatal, childhood and adolescence evaluations. A total of 104 KS individuals fullfiled 362 outpatient visits, with an average follow-up of 2.58 years and a median follow-up time of 1.75 years. Growth curves were plotted based on 433 height data points. Among the patients, 27.08% had congenital heart defects (CHD), and 3 patients were identified with anomalous pulmonary venous connection as a new KS phenotype. KS patients showed facial feature heterogeneity, patients with atypical facial features associated with a older diagnosis age and a more diverse and severe phenotype. Among the 99 KS patients who provided facial photographs, the Face2Gene software was able to make accurate diagnoses in 85 individuals. The remaining 14 individuals may have had incorrect diagnoses because the provided photographs were not frontal facial images.

conclusionThis study offered a comprehensive description of a Chinese KS cohort, and provided the first growth curves and a detailed CHD phenotype spectrum of Chinese KS patients. Our findings also suggest that, despite requirements for photograph quality, facial recognition software will be of significant value in the clinical diagnosis of KS. WHAT IS KNOWN: • Kabuki syndrome is a rare disease that affects multiple systems. • Short stature is one of the common clinical manifestations of Kabuki syndrome. WHAT IS NEW: • The genotypes and phenotypes of patients with Kabuki syndrome in China have been described in detail. • Growth curves for patients with Kabuki syndrome in China have been established.

Indexed as

Abnormalities, MultipleFaceHematologic DiseasesVestibular DiseasesAdolescentChildChild, PreschoolChinaCross-Sectional StudiesDNA-Binding ProteinsExome SequencingFemaleFollow-Up StudiesGenetic Association StudiesGenotypeHistone DemethylasesDNA-Binding ProteinsHistone DemethylasesKDM6A protein, humanKMT2D protein, humanNeoplasm ProteinsGeneotypeKabuki syndromePhenotype

Identifiers

PMID40146326
PMCPMC11950074

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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.