ArticleOrphanet journal of rare diseases2014
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.
Article in Orphanet journal of rare diseases, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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16 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Classic "PCH" Genes are a Rare Cause of Radiologic Pontocerebellar Hypoplasia.Cerebellum (London, England) · 2024Pooled it
- Sex-specific genetic architecture of late-life memory performance.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- Article
- Maternal protein deficiency alters primary cilia length in renal tubular and impairs kidney development in fetal rat.Frontiers in nutrition · 2023Article
- Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review.European journal of medical genetics · 2022Article
- OFD1: One gene, several disorders.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- A rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- Primary cilia in hard tissue development and diseases.Frontiers of medicine · 2021Review
- The Ciliopathy GeneThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2019Article
- Oral-Facial-Digital Syndrome Type 1: Oral Findings in a 6-Year-Old Girl.Journal of pediatric genetics · 2018Article
- A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness.American journal of medical genetics. Part A · 2018Article
- A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report.Iranian journal of public health · 2016Article
- Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.Journal of medical genetics · 2016Article
- Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma.Annals of clinical and translational neurology · 2016Article
- An Atypical Presentation of a Male with Oral-Facial-Digital Syndrome Type 1 Related Ciliopathy.Case reports in nephrology · 2016Article
- Update on oral-facial-digital syndromes (OFDS).Cilia · 2016Review
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12 authors.
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Abstract
backgroundOral-facial-digital type 1 syndrome (OFD1; OMIM 311200) belongs to the expanding group of disorders ascribed to ciliary dysfunction. With the aim of contributing to the understanding of the role of primary cilia in the central nervous system (CNS), we performed a thorough characterization of CNS involvement observed in this disorder.
methodsA cohort of 117 molecularly diagnosed OFD type I patients was screened for the presence of neurological symptoms and/or cognitive/behavioral abnormalities on the basis of the available information supplied by the collaborating clinicians. Seventy-one cases showing CNS involvement were further investigated through neuroimaging studies and neuropsychological testing.
resultsSeventeen patients were molecularly diagnosed in the course of this study and five of these represent new mutations never reported before. Among patients displaying neurological symptoms and/or cognitive/behavioral abnormalities, we identified brain structural anomalies in 88.7%, cognitive impairment in 68%, and associated neurological disorders and signs in 53% of cases. The most frequently observed brain structural anomalies included agenesis of the corpus callosum and neuronal migration/organisation disorders as well as intracerebral cysts, porencephaly and cerebellar malformations.
conclusionsOur results support recent published findings indicating that CNS involvement in this condition is found in more than 60% of cases. Our findings correlate well with the kind of brain developmental anomalies described in other ciliopathies. Interestingly, we also described specific neuropsychological aspects such as reduced ability in processing verbal information, slow thought process, difficulties in attention and concentration, and notably, long-term memory deficits which may indicate a specific role of OFD1 and/or primary cilia in higher brain functions.
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