ArticlePediatric research2018
Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures.
Article in Pediatric research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
What it found
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Who cites it
11 citing papers in PubMed.
- A novel mutation inFrontiers in neuroscience · 2026Article
- Radial Microbrain (Micrencephaly) Is Caused by a Recurrent Variant in theNeurology. Genetics · 2025Article
- Article
- Microcephaly, Short Stature, Intellectual Disability, Speech Absence and Cataract Are Associated with Novel Bi-Allelic Missense Variant inChildren (Basel, Switzerland) · 2023Article
- Impaired Reorganization of Centrosome Structure Underlies Human Infantile Dilated Cardiomyopathy.Circulation · 2023Article
- Case Report: Novel biallelic moderately damaging variants inFrontiers in pediatrics · 2023Article
- Human Microcephaly ProteinCells · 2021Article
- Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Exome sequencing reveled a compound heterozygous mutations inSaudi journal of biological sciences · 2021Article
- Pontocerebellar Hypoplasia: a Pattern Recognition Approach.Cerebellum (London, England) · 2020Article
- Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.Brain : a journal of neurology · 2019Article
Corrections and comments
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Authors and funding
14 authors.
Funding
Abstract
backgroundBiallelic deleterious variants in RTTN, which encodes rotatin, are associated with primary microcephaly, polymicrogyria, seizures, intellectual disability, and primordial dwarfism in human infants. METHODS AND
resultsWe performed exome sequencing of an infant with primary microcephaly, pontocerebellar hypoplasia, and intractable seizures and his healthy, unrelated parents. We cultured the infant's fibroblasts to determine primary ciliary phenotype.
resultsWe identified biallelic variants in RTTN in the affected infant: a novel missense variant and a rare, intronic variant that results in aberrant transcript splicing. Cultured fibroblasts from the infant demonstrated reduced length and number of primary cilia.
conclusionBiallelic variants in RTTN cause primary microcephaly in infants. Functional characterization of primary cilia length and number can be used to determine pathogenicity of RTTN variants.
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