ArticleOrphanet journal of rare diseases2016
Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.
Article in Orphanet journal of rare diseases, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.
- Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.Journal of neurology · 2022Pooled it
- Two mild phenotype molybdenum cofactor deficiency patients with novel MOCS2 mutation and immunological treatment after COVID-19 infection.BMC neurology · 2026Article
- Distinct Clinical Phenotypes in KIF1A-Associated Neurological Disorders Result from Different Amino Acid Substitutions at the Same Residue in KIF1A.Biomolecules · 2025Article
- Near-complete Middle Eastern genomes refine autozygosity and enhance disease-causing and population-specific variant discovery.Nature genetics · 2025Article
- Increased Survival in Patients With Molybdenum Cofactor Deficiency Type A Treated With Cyclic Pyranopterin Monophosphate.Journal of inherited metabolic disease · 2025Article
- Cryo-EM unveils kinesin KIF1A's processivity mechanism and the impact of its pathogenic variant P305L.Nature communications · 2024Article
- Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing.Archives of medical science : AMS · 2023Article
- The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.Scientific reports · 2022Article
- Molybdenum Cofactor Deficiency in Humans.Molecules (Basel, Switzerland) · 2022Review
- Ocular characteristics of a 6-year-Old boy with molybdenum cofactor deficiency type B.American journal of ophthalmology case reports · 2022Article
- Single-Molecule Studies on the Motion and Force Generation of the Kinesin-3 Motor KIF1A.Methods in molecular biology (Clifton, N.J.) · 2022Article
- Genotype and defects in microtubule-based motility correlate with clinical severity inHGG advances · 2021Article
- The effect of dietary protein restriction in a case of molybdenum cofactor deficiency withMolecular genetics and metabolism reports · 2021Article
- MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia.Nature communications · 2020Article
- Genetic background of ataxia in children younger than 5 years in Finland.Neurology. Genetics · 2020Article
- Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families.BMC medical genetics · 2020Article
- A RareFrontiers in genetics · 2020Article
- Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature.Molecular genetics & genomic medicine · 2019Article
- Going Too Far Is the Same as Falling ShortFrontiers in cellular neuroscience · 2019Review
- Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.Human genetics · 2018Article
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Authors and funding
16 authors at 8 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCerebellar atrophy and developmental delay are commonly associated features in large numbers of genetic diseases that frequently also include epilepsy. These defects are highly heterogeneous on both the genetic and clinical levels. Patients with these signs also typically present with non-specific neuroimaging results that can help prioritize further investigation but don't suggest a specific molecular diagnosis.
methodsTo genetically explore a cohort of 18 Egyptian families with undiagnosed cerebellar atrophy identified on MRI, we sequenced probands and some non-affected family members via high-coverage whole exome sequencing (WES; >97 % of the exome covered at least by 30x). Patients were mostly from consanguineous families, either sporadic or multiplex. We analyzed WES data and filtered variants according to dominant and recessive inheritance models.
resultsWe successfully identified disease-causing mutations in half of the families screened (9/18). These mutations are located in seven different genes, PLA2G6 being the gene most frequently mutated (n = 3). We also identified a recurrent de novo mutation in the KIF1A gene and a molybdenum cofactor deficiency caused by the loss of the start codon in the MOCS2A open-reading frame in a mildly affected subject.
conclusionsThis study illustrates the necessity of screening for dominant mutations in WES data from consanguineous families. Our identification of a patient with a mild and improving phenotype carrying a previously characterized severe loss of function mutation also broadens the clinical spectrum associated with molybdenum cofactor deficiency.
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