Evidence map›Paper›PMID 35888687›Full record

ArticleMedicina (Kaunas, Lithuania)2022

Case Report of Neonatal Sotos Syndrome with a New Missense Mutation in the

Hui-Ying Jin, Hai-Feng Li, Jia-Lu Xu, Wang Hui, Wen-Cong Ruan, Cheng-Cheng Lv, Ren-Ai Xu, Shu Qiang

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

Article in Medicina (Kaunas, Lithuania), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.7field-weighted citation impact, top 25% 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

3 citing papers in PubMed, 4 citations in OpenAlex.

  1. Sotos Syndrome With NSD1 Mutations in a Chinese Cohort: Identification of Two Novel Mutations and Literature Review.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2025
    Review
  2. Article
  3. 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 1 institution in 1 country.

Hui-Ying JinDepartment of Rehabilitation, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.
Hai-Feng LiDepartment of Rehabilitation, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.
Jia-Lu XuDepartment of Rehabilitation, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.
Wang HuiDepartment of Rehabilitation, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.
Wen-Cong RuanDepartment of Rehabilitation, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.
Cheng-Cheng LvDepartment of Rehabilitation, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.
Ren-Ai XuDepartment of Rehabilitation, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.
Shu QiangDepartment of Rehabilitation, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.
Children's Hospital of Zhejiang University · CN

Funding

an independent design project of the National Center, a multicenter clinical research project in Zhejiang Province S20A002general scientific research project of the Zhejiang Provincial Department of Education Y201839414Provincial Natural Science Foundation LP20H090009
6 · The paper itself

Abstract

Currently, no consensus exists regarding Sotos syndrome in the Chinese population. Here, we present a case of neonatal Sotos syndrome, followed by a retrospective analysis of five cases of neonatal Sotos syndrome, reported in China. The study subject was a twin premature infant, heavier than gestational age, with characteristic facial features, limb shaking, and hypertonia. Transient hypoglycemia, abnormal cranial magnetic resonance imaging, multiple nodules in polycystic kidneys and liver, abnormal hearing, patent ductus arteriosus, and an atrial septal defect were also noted. The subject showed overgrowth and developmental retardation at 3 months of age. Sequencing revealed a novel missense mutation, c.5000C>A, in the nuclear receptor binding the SET domain protein 1 gene, resulting in an alanine-to-glutamate substitution. The bioinformatics analysis suggested high pathogenicity at this site. This study provides insights into diagnosis of neonatal Sotos syndrome based on specific phenotypes. Subsequent treatment and follow-up should focus on developmental retardation, epilepsy, and scoliosis.

Indexed as

Sotos SyndromeHistone-Lysine N-MethyltransferaseHistone MethyltransferasesHumansIntracellular Signaling Peptides and ProteinsMutationMutation, MissenseNuclear ProteinsRetrospective StudiesHistone-Lysine N-MethyltransferaseHistone MethyltransferasesIntracellular Signaling Peptides and ProteinsNSD1 protein, humanNuclear Proteinsc.5000C>Achr5:176687023missense variationneonatal Sotos syndromeNSD1

Identifiers

PMID35888687
PMCPMC9315494
OpenAlexW4286433430

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.