ArticleHuman genetics2017
Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.
Article in Human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 37 citations in OpenAlex.
- Evaluation of genetic diversity and selection signals in gayal populations across four countries through whole-genome resequencing.Stress biology · 2025Article
- UFMylation Modulates OFIP Stability and Centrosomal Localization.Journal of clinical laboratory analysis · 2025Article
- Heritability and Genome-Wide Association Study of Dog Behavioral Phenotypes in a Commercial Breeding Cohort.Genes · 2024Article
- KIAA0753 enhances osteoblast differentiation suppressed by diabetes.Journal of cellular and molecular medicine · 2024Article
- Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology.International journal of molecular sciences · 2022Review
- Genotype-phenotype correlates in Joubert syndrome: A review.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies.American journal of medical genetics. Part A · 2022Article
- CEP120-mediated KIAA0753 recruitment onto centrioles is required for timely neuronal differentiation and germinal zone exit in the developing cerebellum.Genes & development · 2021Article
- High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.Journal of human genetics · 2021Article
- A ciliopathy complex builds distal appendages to initiate ciliogenesis.The Journal of cell biology · 2021Article
- Clinical and genetic heterogeneity of primary ciliopathies (Review).International journal of molecular medicine · 2021Review
- Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes.Frontiers in endocrinology · 2021Article
- Visual Evoked Potentials in Joubert Syndrome: A Suggested Useful Method for Evaluating Future Approaches Targeted to Improve Visual Pathways' Function.Advances in therapy · 2021Observational
- Electroretinographic Assessment in Joubert Syndrome: A Suggested Objective Method to Evaluate the Effectiveness of Future Targeted Treatment.Advances in therapy · 2020Observational
- Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2020Article
- Healthcare recommendations for Joubert syndrome.American journal of medical genetics. Part A · 2020Review
- Joubert syndrome with multiple pituitary hormone deficiency.BMJ case reports · 2019Article
- Review
- Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome.European journal of human genetics : EJHG · 2018Article
- Effects of recombinant human growth hormone on protein malnutrition andExperimental and therapeutic medicine · 2018Article
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Authors and funding
16 authors at 2 institutions in 1 country.
Funding
Abstract
Joubert syndrome and related disorders (JSRD) are a heterogeneous group of ciliopathies defined based on the mid-hindbrain abnormalities that result in the characteristic "molar tooth sign" on brain imaging. The core clinical findings of JSRD are hypotonia, developmental delay, abnormal eye movements and breathing abnormalities. To date, more than 30 JSRD genes that encode proteins important for structure and/or function of cilia have been identified. Here, we present 2 siblings with Joubert syndrome associated with growth hormone deficiency. Whole exome sequencing of the family identified compound heterozygous mutations in KIAA0753, i.e., a missense mutation (p.Arg257Gly) and an intronic mutation (c.2359-1G>C). The intronic mutation alters normal splicing by activating a cryptic acceptor splice site in exon 16. The novel acceptor site skips nine nucleotides, deleting three amino acids from the protein coding frame. KIAA0753 (OFIP) is a centrosome and pericentriolar satellite protein, previously not known to cause Joubert syndrome. We present comprehensive clinical descriptions of the Joubert syndrome patients as well as the cellular phenotype of defective ciliogenesis in the patients' fibroblasts.
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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.