ArticleAmerican journal of human genetics2014
Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.
Article in American journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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30 citing papers in PubMed, 77 citations in OpenAlex.
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- Ring Chromosome 17 Syndrome-A Case Report and Discussion of Diagnostic Methods.American journal of medical genetics. Part A · 2025Article
- Deoxyhypusine synthase deficiency syndrome zebrafish model: aberrant morphology, epileptiform activity, and reduced arborization of inhibitory interneurons.Molecular brain · 2024Article
- Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature.Journal of autism and developmental disorders · 2024Review
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- Investigation of Chromosomal Structural Abnormalities in Patients With Undiagnosed Neurodevelopmental Disorders.Frontiers in genetics · 2022Article
- A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy.American journal of medical genetics. Part A · 2021Article
- Dissecting the complexity of CNV pathogenicity: insights from Drosophila and zebrafish models.Current opinion in genetics & development · 2021Review
- Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine.Nature communications · 2021Article
- Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.American journal of medical genetics. Part A · 2021Article
- Zebrafish as a tool to study schizophrenia-associated copy number variants.Disease models & mechanisms · 2020Review
- Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.American journal of human genetics · 2019Article
- GABARAPs dysfunction by autophagy deficiency in adolescent brain impairs GABAScience advances · 2019Article
- 17p13.1 Microduplication Syndrome in a Child, Familial Short Stature, and Growth Hormone Deficiency: A Case Report and Review of the Literature.Molecular syndromology · 2019Article
- Neuronal subset-specific deletion of Pten results in aberrant Wnt signaling and memory impairments.Brain research · 2018Article
- Survey of Human Chromosome 21 Gene Expression Effects on Early Development inG3 (Bethesda, Md.) · 2018Article
- The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs.American journal of human genetics · 2017Article
- Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.The New England journal of medicine · 2017Article
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Authors and funding
18 authors at 8 institutions in 3 countries.
Funding
Abstract
The 17p13.1 microdeletion syndrome is a recently described genomic disorder with a core clinical phenotype of intellectual disability, poor to absent speech, dysmorphic features, and a constellation of more variable clinical features, most prominently microcephaly. We identified five subjects with copy-number variants (CNVs) on 17p13.1 for whom we performed detailed clinical and molecular studies. Breakpoint mapping and retrospective analysis of published cases refined the smallest region of overlap (SRO) for microcephaly to a genomic interval containing nine genes. Dissection of this phenotype in zebrafish embryos revealed a complex genetic architecture: dosage perturbation of four genes (ASGR1, ACADVL, DVL2, and GABARAP) impeded neurodevelopment and decreased dosage of the same loci caused a reduced mitotic index in vitro. Moreover, epistatic analyses in vivo showed that dosage perturbations of discrete gene pairings induce microcephaly. Taken together, these studies support a model in which concomitant dosage perturbation of multiple genes within the CNV drive the microcephaly and possibly other neurodevelopmental phenotypes associated with rearrangements in the 17p13.1 SRO.
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