Evidence map›Paper›PMID 34953066›Full record

ArticleMolecular genetics & genomic medicine2022

A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis.

Fang Shen, Yongjia Yang, Pengcheng Li, Yu Zheng, Zhenqing Luo, Yuyan Fu, Guanghui Zhu, Haibo Mei, Shanlin Chen, Yimin Zhu

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

Article in Molecular genetics & genomic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.4field-weighted citation impact, top 20% 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

7 citing papers in PubMed, 13 citations in OpenAlex.

  1. Article
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  3. HomozygousJournal of medical genetics · 2024
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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

10 authors at 2 institutions in 1 country.

Fang ShenThe Laboratory of Genetics and Metabolism, Institute of Pediatric Medicine of Hunan Province, Hunan Children's Hospital, Hengyang Medical School, University of South China, Changsha, China.
Yongjia YangThe Laboratory of Genetics and Metabolism, Institute of Pediatric Medicine of Hunan Province, Hunan Children's Hospital, Hengyang Medical School, University of South China, Changsha, China.ORCID 0000-0002-8673-1589
Pengcheng LiThe Laboratory of Genetics and Metabolism, Institute of Pediatric Medicine of Hunan Province, Hunan Children's Hospital, Hengyang Medical School, University of South China, Changsha, China.
Yu ZhengThe Laboratory of Genetics and Metabolism, Institute of Pediatric Medicine of Hunan Province, Hunan Children's Hospital, Hengyang Medical School, University of South China, Changsha, China.ORCID 0000-0002-2511-961X
Zhenqing LuoThe Laboratory of Genetics and Metabolism, Institute of Pediatric Medicine of Hunan Province, Hunan Children's Hospital, Hengyang Medical School, University of South China, Changsha, China.
Yuyan FuThe Laboratory of Genetics and Metabolism, Institute of Pediatric Medicine of Hunan Province, Hunan Children's Hospital, Hengyang Medical School, University of South China, Changsha, China.
Guanghui ZhuDepartment of orthopedics, Hunan Children's Hospital, Hengyang Meical School, University of South China, Changsha, China.
Haibo MeiDepartment of orthopedics, Hunan Children's Hospital, Hengyang Meical School, University of South China, Changsha, China.
Shanlin ChenDepartment of Hand Surgery, Beijing Ji Shui Tan Hospital, Beijing, China.ORCID 0000-0003-1027-338X
Yimin ZhuThe Laboratory of Genetics and Metabolism, Institute of Pediatric Medicine of Hunan Province, Hunan Children's Hospital, Hengyang Medical School, University of South China, Changsha, China.
Hunan Children's Hospital · CNBeijing Tian Tan Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundSMAD6 variants have been reported in patients with radioulnar synostosis (RUS). This study aimed to investigate the genotypes and phenotypes for a large cohort of patients with RUS having mutant SMAD6.

methodsGenomic DNA samples were isolated from 251 RUS sporadic patients (with their parents) and 27 RUS pedigrees. Sanger sequencing was performed for the SMAD6 coding regions. For positive probands, co-segregation and parental-origin analysis of SMAD6 variants and phenotypic re-evaluation were performed for their family members.

resultsWe identified 50 RUS probands with SMAD6 variants (13 co-segregated with RUS in pedigrees and 37 in RUS-sporadic patients). Based on the new and previous data, we identified SMAD6 mutated in 16/38 RUS pedigrees and 61/393 RUS sporadic patients, respectively. Overall, 93 SMAD6 mutant patients with RUS were identified, among which 29 patients had unilateral RUS, where the left side was more involved than the right side (left:right = 20:9). Female protective effects and non-full penetrance were observed, in which only 6.90% mothers (vs. ~50% fathers) of SMAD6 mutant RUS probands had RUS. Pleiotropy was observed as a re-evaluation of SMAD6 mutant families identified: (a) three families had axial skeletal malformations; (b) two families had polydactyly; and (c) eight families had other known malformations.

conclusionSMAD6 was mutated in 42.11% RUS pedigrees and 15.52% RUS sporadic patients. The RUS patients with SMAD6 variants exhibit both non-full-penetrance, variable expressivity, pleiotropy, female protective effects, and the left side is more susceptible than the right side.

Indexed as

Smad6 ProteinSynostosisFemaleGenotypeHumansMalePhenotypeRadiusUlnaSmad6 ProteinSMAD6 protein, humanaxial skeletal malformationspenetrancepleiotropypolydactylySMAD6 variants

Identifiers

PMID34953066
PMCPMC8801148
OpenAlexW4200406787

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.