Novel Variants in the SLC16A2 Gene Associated With Allan-Herndon-Dudley Syndrome in China.

Wei Li, Zijia Sun, Xiao Wu, Fen Lu, Qiaoli Zhou, Xiaoqin Zhang, Min Zhu

Abstract read

In one paragraph

Article in Human mutation, 2026. 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

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

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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.

Novel Variants in the SLC16A2 Gene Associated With Allan-Herndon-Dudley Syndrome in China.Human mutation · 2026
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

7 authors.

Wei LiDepartment of Rehabilitation, Children's Hospital of Nanjing Medical University, College of Pediatrics, Nanjing Medical University, Nanjing, Jiangsu, China, njmu.edu.cn.ORCID https://orcid.org/0009-0000-7982-0033

Zijia SunDepartment of Rehabilitation, Children's Hospital of Nanjing Medical University, College of Pediatrics, Nanjing Medical University, Nanjing, Jiangsu, China, njmu.edu.cn.

Xiao WuDepartment of Rehabilitation, Children's Hospital of Nanjing Medical University, College of Pediatrics, Nanjing Medical University, Nanjing, Jiangsu, China, njmu.edu.cn.

Fen LuDepartment of Rehabilitation, Children's Hospital of Nanjing Medical University, College of Pediatrics, Nanjing Medical University, Nanjing, Jiangsu, China, njmu.edu.cn.

Qiaoli ZhouDepartment of Endocrinology, Children's Hospital of Nanjing Medical University, College of Pediatrics, Nanjing Medical University, Nanjing, Jiangsu, China, njmu.edu.cn.

Xiaoqin ZhangDepartment of Outpatient, Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu, China.ORCID https://orcid.org/0009-0004-2874-6207

Min ZhuDepartment of Rehabilitation, Children's Hospital of Nanjing Medical University, College of Pediatrics, Nanjing Medical University, Nanjing, Jiangsu, China, njmu.edu.cn.ORCID https://orcid.org/0009-0007-0094-2099

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: This study is aimed at investigating the genetic defects and clinical features of Chinese children with Methods: Children with intellectual disability and abnormal serum thyroid hormone levels were screened using whole-exome sequencing (WES). We collected patients' clinical data and assessed their cognitive, linguistic, and motor abilities. Candidate variants were verified by Sanger sequencing, and their pathogenicity and evolutionary conservation were analyzed using in silico prediction tools. Protein expression and subcellular localization of mutant MCT8 were evaluated by Western blotting and immunofluorescence microscopy. Results: Exome sequencing identified seven previously uncharacterized Conclusion: Our findings expand the genotypic and phenotypic spectrum of MCT8 deficiency. The results suggest that

Indexed as

Genetic Predisposition to DiseaseMonocarboxylic Acid TransportersMuscle HypotoniaMuscular AtrophyMutationX-Linked Intellectual DisabilityChildChild, PreschoolChinaExome SequencingFemaleGenetic Association StudiesHumansMaleMutation, MissensePhenotypeMonocarboxylic Acid TransportersSLC16A2 protein, humanSymportersAllan–Herndon–Dudley syndromemonocarboxylate Transporter 8SLC16A2 genethyroid hormone

Identifiers

PMID42147817

DOI10.1155/humu/3319748

PMCPMC13179716

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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.