RGD Reference Report - CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly. - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly.

Authors: Basit, S  Al-Harbi, KM  Alhijji, SA  Albalawi, AM  Alharby, E  Eldardear, A  Samman, MI 
Citation: Basit S, etal., Hum Genet. 2016 Oct;135(10):1199-207. doi: 10.1007/s00439-016-1724-0. Epub 2016 Aug 12.
RGD ID: 11553038
Pubmed: PMID:27519304   (View Abstract at PubMed)
DOI: DOI:10.1007/s00439-016-1724-0   (Journal Full-text)

Autosomal recessive primary microcephaly (MCPH) is a static neurodevelopmental disorder characterized by congenital small head circumference and non-progressive intellectual disability without additional severe brain malformations. MCPH is a genetically heterogeneous disorder. Sixteen genes (MCPH1-MCPH16) have been discovered so far, mutations thereof lead to autosomal recessive primary microcephaly. In a family, segregating MCPH in an autosomal recessive manner, genome-wide homozygosity mapping mapped a disease locus to 16.9-Mb region on chromosome 12q24.11-q24.32. Following this, exome sequencing in three affected individuals of the family discovered a splice site variant (c.753+3A>T) in citron kinase (CIT) gene, segregating with the disorder in the family. CIT co-localizes to the midbody ring during cytokinesis, and its loss of expression results in defects in neurogenic cytokinesis in both humans and mice. Splice site variant in CIT, identified in this study, is predicted to abolish splice donor site. cDNA sequence of an affected individual showed retention of an intron next to the splice donor site. The study, presented here, revealed the first variant in the CIT causing MCPH in the family.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
primary microcephaly susceptibilityIAGP 11553038DNA:splice-site mutation:intron (c.753+3A>T) (human)RGD 
primary microcephaly susceptibilityISOCIT (Homo sapiens)11553038; 11553038DNA:splice-site mutation:intron (c.753+3A>T) (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Cit  (citron rho-interacting serine/threonine kinase)

Genes (Mus musculus)
Cit  (citron)

Genes (Homo sapiens)
CIT  (citron rho-interacting serine/threonine kinase)


Additional Information