ArticleCureus2022
Allan-Herndon-Dudley Syndrome: A Novel Pathogenic Variant of the SLC16A2 gene.
Article in Cureus, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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.
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.
Who cites it
5 citing papers in PubMed, 4 citations in OpenAlex.
- Novel SLC16A2 mutations impair thyroid hormone transport and drive neurodevelopmental deficits in Chinese patients with allan-herndon-dudley syndrome.Scientific reports · 2026Article
- NovelPharmacogenomics and personalized medicine · 2025Article
- Unmet patient needs in monocarboxylate transporter 8 (MCT8) deficiency: a review.Frontiers in pediatrics · 2024Review
- Role and Clinical Significance of Monocarboxylate Transporter 8 (MCT8) During Pregnancy.Reproductive sciences (Thousand Oaks, Calif.) · 2023Review
- Characteristics of Allan-Herndon-Dudley Syndrome in Chinese children: Identification of two novel pathogenic variants of theFrontiers in pediatrics · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Allan-Herndon-Dudley syndrome (AHDS) is a rare disorder characterized by thyroid irregularities, neurological issues, and developmental delay. In this article, we reported a patient with AHDS who presented with severe developmental delay and failure to thrive in the setting of thyroid irregularities. The patient had missense mutations in the SLC16A2 gene, which codes for monocarboxylate transporter 8 (MCT8). We identified two single-nucleotide variants, including guanine to alanine substitution at position +1 of intron 5 (IVS5+1 G>A) and guanine to alanine substitution at position 1400 of intron 1 (c.1400G>A). This variant has not been previously reported as pathogenic in a patient diagnosed with AHDS, as missense and in-frame single amino-acid deletions have not generally been associated with severe neurodevelopment sequela. We review the clinical and laboratory findings of this rare condition. We will discuss the value of early recognition and diagnosis based on promising clinical trials to treat the neurological and developmental sequela associated with AHDS.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.