ArticleJournal of medical genetics2008
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.
Article in Journal of medical genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 90 papers.
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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.
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Who cites it
90 citing papers in PubMed, 217 citations in OpenAlex.
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- Integrative transcriptomics and electrophysiological profiling of hiPSC-derived neurons identifies novel druggable pathways in Koolen-de Vries Syndrome.Molecular psychiatry · 2026Article
- Improving variant interpretation and diagnosis in Koolen-de Vries syndrome through a curated genotype-phenotype repository.Molecular genetics and genomics : MGG · 2025Article
- De Novo HNRNPU Pathogenic Variant Related to Developmental Epileptic Encephalopathy With Inherited KANSL1 Loss-of-Function Variant Resolved by RNA Analysis.Molecular genetics & genomic medicine · 2025Article
- Epilepsy, EEG and chromosomal rearrangements.Epilepsia open · 2024Review
- Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases.Molecular neurodegeneration · 2024Review
- Review
- Understanding the Genetic and Non-Genetic Interconnections in the Aetiology of Syndromic Congenital Heart Disease: An Updated Review: Part 2.Current cardiology reports · 2024Review
- A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells.European journal of human genetics : EJHG · 2024Article
- 17q21.31 Microduplication Syndrome in a Patient with Autism Spectrum Disorder, Macrocephaly, and Intellectual Disability.Reports (MDPI) · 2023Article
- Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel feature.European journal of human genetics : EJHG · 2023Article
- Association studies between chromosomal regions 1q21.3, 5q21.3, 14q21.2 and 17q21.31 and numbers of children in Poland.Scientific reports · 2022Article
- Koolen-de Vries syndrome in a 63-year-old woman: Report of the oldest patient and a review of the adult phenotype.American journal of medical genetics. Part A · 2022Review
- Genetic heterogeneity in corpus callosum agenesis.Frontiers in genetics · 2022Review
- Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes.Genome medicine · 2021Article
- Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome.European journal of human genetics : EJHG · 2021Article
- Profiling variable-number tandem repeat variation across populations using repeat-pangenome graphs.Nature communications · 2021Article
- Sex-specific recombination patterns predict parent of origin for recurrent genomic disorders.BMC medical genomics · 2021Article
- Prenatal ultrasound findings in Koolen-de Vries foetuses: Central nervous system anomalies are frequent markers of this syndrome.Molecular genetics & genomic medicine · 2021Article
- Human disease genes website series: An international, open and dynamic library for up-to-date clinical information.American journal of medical genetics. Part A · 2021Article
30 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
48 authors at 20 institutions in 11 countries.
Funding
Abstract
backgroundThe chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses in patients with unexplained mental retardation.
aimWe report the molecular and/or clinical characterisation of 22 individuals with the 17q21.31 microdeletion syndrome.
resultsWe estimate the prevalence of the syndrome to be 1 in 16,000 and show that it is highly underdiagnosed. Extensive clinical examination reveals that developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour are the most characteristic features. Other clinically important features include epilepsy, heart defects and kidney/urologic anomalies. Using high resolution oligonucleotide arrays we narrow the 17q21.31 critical region to a 424 kb genomic segment (chr17: 41046729-41470954, hg17) encompassing at least six genes, among which is the gene encoding microtubule associated protein tau (MAPT). Mutation screening of MAPT in 122 individuals with a phenotype suggestive of 17q21.31 deletion carriers, but who do not carry the recurrent deletion, failed to identify any disease associated variants. In five deletion carriers we identify a <500 bp rearrangement hotspot at the proximal breakpoint contained within an L2 LINE motif and show that in every case examined the parent originating the deletion carries a common 900 kb 17q21.31 inversion polymorphism, indicating that this inversion is a necessary factor for deletion to occur (p<10(-5)).
conclusionOur data establish the 17q21.31 microdeletion syndrome as a clinically and molecularly well recognisable genomic disorder.
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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.