ArticleAmerican journal of human genetics2014
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.
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. An erratum has been issued. Cited by 45 papers.
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Who cites it
45 citing papers in PubMed, 115 citations in OpenAlex.
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- Poretti-Boltshauser Syndrome in a Toddler: Novel Neuroimaging Features and Clinical Presentation.Cureus · 2025Article
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- Strabismus in Genetic Syndromes: A Review.Clinical & experimental ophthalmology · 2025Review
- Phenotypic variability in two siblings with Poretti-Boltshauser syndrome.Global medical genetics · 2025Article
- Risk factor analysis and nomogram development for advanced-stage hepatic fibrosis in patients with Wilson's disease.Frontiers in medicine · 2025Article
- Case Report: An Adult Case of Poretti-Boltshauser Syndrome Diagnosed by Medical Checkup.Cerebellum (London, England) · 2024Article
- Monozygotic triplets with juvenile-onset autoimmunity and 18p microdeletion involvingFrontiers in genetics · 2024Article
- World-Renowned "Swiss" Pediatricians, Their Syndromes, and Matching Imaging Findings: A Historical Perspective.Children (Basel, Switzerland) · 2023Review
- Genotype-phenotype correlates in Joubert syndrome: A review.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- RecessiveFrontiers in molecular neuroscience · 2022Article
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- Crosstalk among Calcium ATPases: PMCA, SERCA and SPCA in Mental Diseases.International journal of molecular sciences · 2021Review
- Characterization of Hepatitis B Virus Integrations Identified in Hepatocellular Carcinoma Genomes.Viruses · 2021Article
- Molecular characterization of a complex small supernumerary marker chromosome derived from chromosome 18p: an addition to the literature.Molecular cytogenetics · 2021Article
- An Early Diagnostic Clue forFrontiers in cell and developmental biology · 2021Article
- Identification ofBrain communications · 2021Article
Corrections and comments
- Erratum issued
Authors and funding
21 authors at 10 institutions in 2 countries.
Funding
Abstract
Cerebellar dysplasia with cysts (CDC) is an imaging finding typically seen in combination with cobblestone cortex and congenital muscular dystrophy in individuals with dystroglycanopathies. More recently, CDC was reported in seven children without neuromuscular involvement (Poretti-Boltshauser syndrome). Using a combination of homozygosity mapping and whole-exome sequencing, we identified biallelic mutations in LAMA1 as the cause of CDC in seven affected individuals (from five families) independent from those included in the phenotypic description of Poretti-Boltshauser syndrome. Most of these individuals also have high myopia, and some have retinal dystrophy and patchy increased T2-weighted fluid-attenuated inversion recovery (T2/FLAIR) signal in cortical white matter. In one additional family, we identified two siblings who have truncating LAMA1 mutations in combination with retinal dystrophy and mild cerebellar dysplasia without cysts, indicating that cysts are not an obligate feature associated with loss of LAMA1 function. This work expands the phenotypic spectrum associated with the lamininopathy disorders and highlights the tissue-specific roles played by different laminin-encoding genes.
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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.