ArticleNeurogenetics2021
First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.
Article in Neurogenetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 15 citations in OpenAlex.
- From inactivation to intervention: X chromosome silencing in disease pathogenesis and emerging therapeutic strategies.Genes & diseases · 2026Review
- MCT8 Deficiency in Females.The Journal of clinical endocrinology and metabolism · 2025Article
- Article
- Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.Nature communications · 2025Article
- Aging activates escape of the silent X chromosome in the female mouse hippocampus.Science advances · 2025Article
- Identification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencing.BMC medical genomics · 2025Article
- Transcription regulation by long non-coding RNAs: mechanisms and disease relevance.Nature reviews. Molecular cell biology · 2024Review
- 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
- Species-specific regulation of XIST by the JPX/FTX orthologs.Nucleic acids research · 2023Article
- Allan-Herndon-Dudley syndrome in a female patient and related mechanisms.Molecular genetics and metabolism reports · 2022Article
- Characteristics of Allan-Herndon-Dudley Syndrome in Chinese children: Identification of two novel pathogenic variants of theFrontiers in pediatrics · 2022Article
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Authors and funding
26 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Allan-Herndon-Dudley is an X-linked recessive syndrome caused by pathogenic variants in the SLC16A2 gene. Clinical manifestations are a consequence of impaired thyroid metabolism and aberrant transport of thyroid hormones to the brain. Carrier females are generally asymptomatic and may show subtle symptoms of the disease. We describe a female with a complete Allan-Herndon-Dudley phenotype, carrying a de novo 543-kb deletion of the X chromosome. The deletion encompasses exon 1 of the SLC16A2 gene and JPX and FTX genes; it is known that the latter two genes participate in the X-inactivation process upregulating XIST gene expression. Subsequent studies in the patient demonstrated the preferential expression of the X chromosome with the JPX and FTX deletion.
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