ArticleNeurogenetics2019
Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556.
Article in Neurogenetics, 2019. 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, 27 citations in OpenAlex.
- Hydrocephalus caused bybioRxiv : the preprint server for biology · 2026Article
- Human disease variants of KATNIP fail to support CILK1 activation and control of primary cilia.Journal of cell science · 2025Article
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- Phenotypic Spectrum ofGenes · 2025Review
- The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact.Fluids and barriers of the CNS · 2024Review
- Katnip is needed to maintain microtubule function and lysosomal delivery to autophagosomes and phagosomes.Molecular biology of the cell · 2023Article
- Ciliopathies in pediatric endocrinology.Annals of pediatric endocrinology & metabolism · 2023Article
- Modeling the enigma of complex disease etiology.Journal of translational medicine · 2023Article
- Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology.International journal of molecular sciences · 2022Review
- Novel compound heterozygousWorld journal of clinical cases · 2022Article
- Unexpected redundancy of Gpr56 and Gpr97 during hematopoietic cell development and differentiation.Blood advances · 2021Article
- Case Report: Diffuse Polymicrogyria Associated With a NovelFrontiers in pediatrics · 2021Article
- Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review.BMC pediatrics · 2020Review
- The odyssey of diagnosing genetic disorders in evolving health services.Sudanese journal of paediatrics · 2019Article
- Adhesion G protein-coupled receptors in glioblastoma.Neuro-oncology advancesReview
Corrections and comments
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Authors and funding
13 authors at 6 institutions in 5 countries.
Funding
Abstract
Genetic mutations associated with brain malformations can lead to a spectrum of severity and it is often difficult to determine whether there are additional pathogenic variants contributing to the phenotype. Here, we present a family affected by a severe brain malformation including bilateral polymicrogyria, hydrocephalus, patchy white matter signal changes, and cerebellar and pontine hypoplasia with elongated cerebellar peduncles leading to the molar tooth sign. While the malformation is reminiscent of bilateral frontoparietal polymicrogyria (BFPP), the phenotype is more severe than previously reported and also includes features of Joubert syndrome (JBTS). Via exome sequencing, we identified homozygous truncating mutations in both ADGRG1/GPR56 and KIAA0556, which are known to cause BFPP and mild brain-specific JBTS, respectively. This study shows how two independent mutations can interact leading to complex brain malformations.
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Registered trials
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.