ReviewJournal of human genetics2021
Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review.
Review in Journal of human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 22 citations in OpenAlex.
- Identification of 5' untranslated region variants in genes involved in neurodevelopmental disorders.Journal of human genetics · 2026Article
- Phenotypic prediction of missense variants via deep contrastive learning.Nature biomedical engineering · 2026Article
- Exome Sequencing in a Large Cohort with Ciliopathy-Related Kidney Disease.Clinical journal of the American Society of Nephrology : CJASN · 2026Article
- Novel biallelic CDK9 variants are associated with retinal dystrophy without CHARGE-like malformation syndrome.Journal of human genetics · 2026Article
- Homozygous Microdeletion Involving Exon 1 of ERCC8 and NDUFAF2 With Uniparental Isodisomy of Chromosome 5.Molecular genetics & genomic medicine · 2024Article
- Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield.Journal of human genetics · 2024Article
- Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.Scientific reports · 2024Article
- RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing.Journal of human genetics · 2024Article
- Two novel cases of biallelic SMPD4 variants with brain structural abnormalities.Neurogenetics · 2024Review
- Prediction of anti-microtubular target proteins of tubulins and their interacting proteins using Gene Ontology tools.Journal, genetic engineering & biotechnology · 2023Article
- A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome.Journal of human genetics · 2023Article
- Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.Molecular neurobiology · 2023Review
- De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities.Journal of human genetics · 2023Article
- A Novel Constitutively ActiveHuman mutation · 2023Article
- An intronic GNAO1 variant leading to in-frame insertion cause movement disorder controlled by deep brain stimulation.Neurogenetics · 2022Article
Corrections and comments
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Authors and funding
8 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Heterozygous variants in TUBB encoding one of β-tubulin isotypes are known to cause two overlapping developmental brain disorders, complex cortical dysplasia with other brain malformations (CDCBM) and congenital symmetric circumferential skin creases (CSCSC). To date, six cases of CSCSC and eight cases of CDCBM caused by nine heterozygous variants have been reported. Here we report two cases with novel de novo missense TUBB variants (NM_178014.4:c.863A>G, p.(Glu288Gly) and c.869C>T, p.(Thr290Ile)). Case 1 presented brain malformations consistent with tubulinopathies including abnormalities in cortex, basal ganglia, corpus callosum, brain stem, and cerebellum along with other systemic features such as coloboma, facial dysmorphisms, vesicoureteral reflux, hypoplastic kidney, and cutis laxa-like mild skin loosening. Another case presented abnormalities of the corpus callosum, brain stem, and cerebellum along with facial dysmorphisms. We reviewed previous literature and suggest the diversity of clinical findings of TUBB-related disorders.
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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.