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microcephaly 17, primary, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly 17, primary, autosomal recessive

MONDO:0014908

Also known as:CIT autosomal recessive primary microcephalyMCPH17autosomal recessive primary microcephaly caused by mutation in CIT

Overview

Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CIT gene.

GeneticsAutosomal recessive · CIT (chr 12)

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Delayed fine motor development, Thick vermilion border, Intellectual disability, and Delayed speech and language development and others; and very common findings: Hypoplasia of the corpus callosum. 27 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	11	Hypoplasia of the brainstem, Seizure, Delayed fine motor development

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CIT encodes citron rho-interacting serine/threonine kinase (2,027 aa). Plays a role in cytokinesis. Required for KIF14 localization to the central spindle and midbody. Putative RHO/RAC effector that binds to the GTP-bound forms of RHO and RAC1. Highest expression in Brain Cortex (46.5 TPM) and Brain Frontal Cortex BA9 (44.1 TPM).

Microcephaly 17, primary, autosomal recessive is associated with mutations in the CIT gene on chromosome 12.

The CIT protein participates in FGFR2(2-822)-CIT(927-2027) fusion and p-6Y-FGFR2(2-822)-CIT(927-2027) fusion pathways.

CIT is classified as a druggable target (Druggable Genome, Enzyme, Kinase, and Serine Threonine Kinase categories) with score 0.0.

Diagnosis

Genetic testing for CIT is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 10 always present features, 1 very common feature, 3 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for microcephaly 17, primary, autosomal recessive.

3 publications have been identified in PubMed for microcephaly 17, primary, autosomal recessive. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

Albokhari D (2026). [PMID: 42079399](https://pubmed.ncbi.nlm.nih.gov/42079399/). *Mol Genet Metab Rep*. [Case Report / Case Series]
Yoon JG (2025). [PMID: 40770811](https://pubmed.ncbi.nlm.nih.gov/40770811/). *Genome Med*. [Basic Science / Preclinical]
Chen B (2024). [PMID: 39680195](https://pubmed.ncbi.nlm.nih.gov/39680195/). *J Neurol*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:39 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617090

GARD

Genetic and Rare Diseases Info Center

GARD:16186

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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microcephaly 17, primary, autosomal recessive

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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