Evidence map›Paper›PMID 34504512›Full record

ArticleFrontiers in genetics2021

Transmission of a Novel Imprinting Center Deletion Associated With Prader-Willi Syndrome Through Three Generations of a Chinese Family: Case Presentation, Differential Diagnosis, and a Lesson Worth Thinking About.

Kaihui Zhang, Shu Liu, Wenjun Gu, Yuqiang Lv, Haihua Yu, Min Gao, Dong Wang, Jianyuan Zhao, Xiaoying Li, Zhongtao Gai and 3 more

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

Article in Frontiers in genetics, 2021. 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
1.2field-weighted citation impact, top 19% 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

1 citing paper in PubMed, 8 citations in OpenAlex.

  1. 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

13 authors at 3 institutions in 1 country.

Kaihui ZhangObstetrics and Gynecology Hospital of Fudan University, Fudan University, Shanghai, China.
Shu LiuChildren Inherited Metabolism and Endocrine Department, Guangdong Women and Children Hospital, Guangzhou, China.
Wenjun GuState Key Laboratory of Genetic Engineering and School of Life Sciences, Fudan University, Shanghai, China.
Yuqiang LvPediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, China.
Haihua YuNeonatal Intensive Care Unit, Qilu Children's Hospital of Shandong University, Jinan, China.
Min GaoPediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, China.
Dong WangPediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, China.
Jianyuan ZhaoState Key Laboratory of Genetic Engineering and School of Life Sciences, Fudan University, Shanghai, China.
Xiaoying LiPediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, China.
Zhongtao GaiPediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, China.
Shimin ZhaoObstetrics and Gynecology Hospital of Fudan University, Fudan University, Shanghai, China.
Yi LiuPediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, China.
Yiyuan YuanObstetrics and Gynecology Hospital of Fudan University, Fudan University, Shanghai, China.
Qilu Hospital of Shandong University · CNFudan University · CNGuangdong Province Women and Children Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Prader-Willi syndrome (PWS) is a complex genetic syndrome caused by the loss of function of genes in 15q11-q13 that are subject to regulation by genomic imprinting and expressed from the paternal allele only. The main clinical features of PWS patients are hypotonia during the neonatal and infantile stages, accompanied by delayed neuropsychomotor development, hyperphagia, obesity, hypogonadism, short stature, small hands and feet, mental disabilities, and behavioral problems. However, PWS has a clinical overlap with other disorders, especially those with other gene variations or chromosomal imbalances but sharing part of the similar clinical manifestations with PWS, which are sometimes referred to as Prader-Willi syndrome-like (PWS-like) disorders. Furthermore, it is worth mentioning that significant obesity as a consequence of hyperphagia in PWS usually develops between the ages of 1 and 6 years, which makes early diagnosis difficult. Thus, PWS is often not clinically recognized in infants and, on the other hand, may be wrongly suspected in obese and intellectually disabled patients. Therefore, an accurate investigation is necessary to differentiate classical PWS from PWS-like phenotypes, which is imperative for further treatment. For PWS, it is usually sporadic, and very rare family history and affected siblings have been described. Here, we report the clinical and molecular findings in a three-generation family with a novel 550-kb microdeletion affecting the chromosome 15 imprinting center (IC). Overall, the present study finds that the symptoms of our patient are somewhat different from those of typical PWS cases diagnosed and given treatment in our hospital. The familial occurrence and clinical features were challenging to our diagnostic strategy. The microdeletion included a region within the complex small nuclear ribonucleoprotein polypeptide protein N (

Indexed as

familial transmissionimprinting centermicrodeletionPrader–Willi-like syndromePrader–Willi syndrome

Identifiers

PMID34504512
PMCPMC8421676
OpenAlexW3193819033

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.