Microcephaly 17, Primary, Autosomal Recessive

Alternative Names

  • MCPH17
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

OMIM Number

617090

Mode of Inheritance

Autosomal recessive

Gene Map Locus

12q24.23

Description

MCPH17 is characterized by a reduced head circumference, intellectual disability and delayed psychomotor development.  Patients suffer from facial dysmorphia, such as a sloping forehead, large ears, hypertelorism, a bulbous nose and thick lips.  Neurologic anomalies are variable and may include a simplified gyral pattern, microlissencephaly, enlarged ventricles, agenesis of the corpus callosum, brainstem hypoplasia, cerebellar hypoplasia, abnormal lamination and multinucleated neurons.  The disorder can result in axial hypotonia, spasticity, hypertonia of the limbs, hyperreflexia, short stature, a failure to thrive, and in rare cases, seizures. 

MCPH17 follows an autosomal recessive pattern of inheritance and is associated with homozygous mutations in the CIT gene.  This gene encodes a serine/threonine kinase that plays a key role in cell cytokinesis, actin polymerization and neuron generation.  Hence, it is believed that defects in this gene can lead to reduced generation of cerebral cortical neurons during embryonic neurogenesis, resulting in the smaller head size seen in this disorder.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
617090.1EgyptFemaleYesYes Sloping forehead; Micrognathia; Open mou...NM_001206999.1:c.1111+1G>AHomozygousAutosomal, RecessiveShaheen et al. 2019; Shaheen et al. 2016a
617090.2Saudi ArabiaFemaleNoYes Lissencephaly; Abnormality of neuronal m...NM_001206999.2:c.753+3A>THomozygousAutosomal, RecessiveShaheen et al. 2019; Shaheen et al. 2016a
617090.3.1EgyptMaleYesYes Intellectual disability, moderate; Delay...NM_001206999.2:c.317G>THomozygousAutosomal, RecessiveLi et al. 2016 Patient from 'family...
617090.3.2EgyptFemaleYesYes Delayed gross motor development; Delayed...NM_001206999.2:c.317G>THomozygousAutosomal, RecessiveLi et al. 2016 Sister of 617090.3.1
617090.3.3EgyptMaleYesYes Delayed gross motor development; Delayed...NM_001206999.2:c.317G>THomozygousAutosomal, RecessiveLi et al. 2016 Brother of 617090.3....
617090.4.1EgyptFemaleYesYes Intellectual disability, moderate; Delay...NM_001206999.2:c.376A>CHomozygousAutosomal, RecessiveLi et al. 2016 Patient from 'family...
617090.4.2EgyptFemaleYesYes Intellectual disability, moderate; Delay...NM_001206999.2:c.376A>CHomozygousAutosomal, RecessiveLi et al. 2016 Sister of 617090.4.1
617090.4.3EgyptMaleYesYes Delayed gross motor development; Delayed...NM_001206999.2:c.376A>CHomozygousAutosomal, RecessiveLi et al. 2016 Cousin of 617090.4.1
617090.5EgyptMaleYesYes Microcephaly; Microlissencephaly; Agenes...NM_001206999.1:c.1111+1G>AHomozygousAutosomal, RecessiveHarding et al. 2016 'Proband A' in the p...
617090.6United Arab EmiratesMaleYesYes Microcephaly; Microlissencephaly; Agenes...NM_001206999.2:c.29_38delHomozygousAutosomal, RecessiveHarding et al. 2016 'Proband B' in the p...
617090.G.1Saudi ArabiaYesYes Microcephaly; Intellectual disability; S...NM_001206999.2:c.753+3A>THomozygousAutosomal, RecessiveBasit et al. 2016 Four siblings includ...
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