ArticleIranian journal of child neurology2017
Association of a Novel Nonsense Mutation in KIAA1279 with Goldberg-Shprintzen Syndrome.
Article in Iranian journal of child neurology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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Who cites it
9 citing papers in PubMed, 11 citations in OpenAlex.
- Rules of the road: how to turn off kinesin motors.The Biochemical journal · 2026Review
- Presynaptic perspective: Axonal transport defects in neurodevelopmental disorders.The Journal of cell biology · 2024Review
- Goldberg-Shprintzen Syndrome Associated with a Novel Variant in theMolecular syndromology · 2021Article
- Cryo-EM of kinesin-binding protein: challenges and opportunities from protein-surface interactions.Acta crystallographica. Section D, Structural biology · 2021Article
- Article
- Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.Human mutation · 2020Article
- Multiple Functions of KBP in Neural Development Underlie Brain Anomalies in Goldberg-Shprintzen Syndrome.Frontiers in molecular neuroscience · 2019Article
- Kif1bp loss in mice leads to defects in the peripheral and central nervous system and perinatal death.Scientific reports · 2017Article
- The Genetic Landscape of Polymicrogyria.Annals of Indian Academy of NeurologyArticle
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Goldberg-Shprintzen syndrome (OMIM 609460) (GOSHS) is an autosomal recessive multiple congenital anomaly syndrome distinguished by intellectual disability, microcephaly, and dysmorphic facial characteristics. Most affected individuals also have Hirschsprung disease and/or gyral abnormalities of the brain. This syndrome has been associated with KIAA1279 gene mutations at 10q22.1. Here we report a 16 yr old male patient referred to Center for Comprehensive Genetic Services, Tehran, Iran in 2015 with cardinal features of GOSHS in addition to refractory seizures. Whole exome sequencing in the patient revealed a novel nonsense (stop gain) homozygous mutation in KIAA1279 gene (KIAA1279: NM_015634:exon6:c.C976T:p.Q326X). Considering the wide range of phenotypic variations in GOSHS, relying on phenotypic characteristics for discrimination of GOSH from similar syndromes may lead to misdiagnosis. Consequently, molecular diagnostic tools would help in accurate diagnosis of such overlapping phenotypes.
Indexed as
Identifiers
28277559PMC5329763W2576223864What OpenQuestion holds
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.