Evidence map›Paper›PMID 40390087›Full record

ReviewBMC medical genomics2025

Deep clinical and genetic analysis of 17p13.3 region: 38 pediatric patients diagnosed using next-generation sequencing and literature review.

Xiaoshan Ji, Qiong Xu, Yulan Lu, Bo Liu, Feifan Xiao, Qi Ni, Suzhen Xu, Renchao Liu, Gang Li, Bingbing Wu and 2 more

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in BMC medical genomics, 2025. 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
–field-weighted citation impact
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.

  1. Article
  2. 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.

Xiaoshan Ji *Center for Molecular Medicine, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.
Qiong Xu *Department of Child Health Care, Children's Hospital of Fudan University, Shanghai, 201102, China.
Yulan LuCenter for Molecular Medicine, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.
Bo LiuCenter for Molecular Medicine, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.
Feifan XiaoCenter for Molecular Medicine, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.
Qi NiDepartment of Neonatology, Children's Hospital of Fudan University, Shanghai, 201102, China.
Suzhen XuCenter for Molecular Medicine, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.
Renchao LiuCenter for Molecular Medicine, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.
Gang LiCenter for Molecular Medicine, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.
Bingbing WuCenter for Molecular Medicine, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China. 081107271@fudan.edu.cn.
Shuizhen ZhouDepartment of Neurology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China. szzhou@shmu.edu.cn.
Huijun WangCenter for Molecular Medicine, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China. huijunwang@fudan.edu.cn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundChromosome 17p13.3 is a region of genomic instability associated with different neurodevelopmental diseases. The malformation spectrum of 17p13.3 microdeletions ranges from an isolated lissencephaly sequence to Miller-Dieker syndrome, while 17p13.3 microduplications result in autism, learning disabilities, microcephaly and other brain malformations. This study aims to provide a more comprehensive delineation of the clinical and genetic characteristics associated with 17p13.3 alterations.

methodsWe retrospectively analyzed the next-generation sequencing (NGS) data of more than 40 thousand patients from January 2016 to December 2021 and identified 38 pediatric patients with copy-number variations (CNVs) or single-nucleotide variations (SNVs) in 17p13.3 region. Published patients with CNVs in the 17p13.3 region were also collected and we performed a Chi-square test to compare the phenotype spectrum of microdeletions and microduplications.

resultsAmong the 27 CNV patients, 20 patients with microdeletions and 7 patients with microduplications were found. PAFAH1B1 was the most frequently deleted gene and CRK was the most frequently duplicated gene. Affected genes in 11 SNV patients included PAFAH1B1 and PRPF8. Developmental delay was the most common abnormality detected in the 38 patients (29/38, 76.3%). Of note, Case 10 presented omphalocele and Case 23 presented scoliosis, webbed neck and bone cyst, all of which were unusual variant phenotypes in this region. The Chi-square test revealed that epilepsy, lissencephaly and short stature were statistically significant with microdeletions, while behavioral abnormalities and hand and foot abnormalities were significant with microduplications (p < 0.01).

conclusionsWhile PAFAH1B1, YWHAE and CRK are associated with major phenotypes of 17p13.3, RTN4RL1 may be involved in white matter changes and HIC1 might contribute to the occurrence of omphalocele. This study provided a comprehensive understanding of genetic information and phenotype spectrum of the 17p13.3 region.

Indexed as

Chromosomes, Human, Pair 17High-Throughput Nucleotide Sequencing1-Alkyl-2-acetylglycerophosphocholine EsteraseAdolescentChildChild, PreschoolChromosome DeletionDNA Copy Number VariationsFemaleHumansInfantMaleMicrotubule-Associated ProteinsPhenotypePolymorphism, Single NucleotideRetrospective Studies1-Alkyl-2-acetylglycerophosphocholine EsteraseMicrotubule-Associated ProteinsPAFAH1B1 protein, human17p13.3Copy number variantsDevelopmental delayLissencephalyNext-generation sequencingSingle-nucleotide variation

Identifiers

PMID40390087
PMCPMC12090631

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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.