microcephaly type 5, primary, autosomal recessive

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microcephaly type 5, primary, autosomal recessive

An autosomal recessive primary microcephaly (OMIM:608716) characterised by a disproportionately small brain and cerebral cortex, with a well-preserved gyral pattern and no major defects in cortical architecture. Microcephaly is defined by a head circumference ≥ 3 standard deviations below the age-related mean; primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits.
 
Molecular pathology
Caused by defects of ASPM, which encodes a protein required for normal mitotic spindle function in embryonic neuroblasts.
References in periodicals archive ?
Mutations in the ASPM gene, linked to MCPH5 (#605481), are reported to be the most common genetic cause for MCPH (68.6%) (Zaquot et al., 2017).
Therefore, the ASPM gene is involved in determining cerebral cortical size during development and linked to primary autosomal recessive microcephaly type 5 (MCPH5; (#605481)).
The linkage at MCPH5 locus was established in family B, associated earlier in causing microcephaly with mutation in ASPM gene.
Abnormal spindle like microcephaly associated protein (ASPM) at MCPH5 (Fish et al., 2006).
Microcephalin which corresponds to MCPH1, WDR62 (WD repeat-containing protein 62) at MCPH2, CDK5RAP2 (CDK5 regulatory subunit-associated protein 2) at MCPH3, CEP152 (centrosomal protein, 152-KD) at MCPH4, ASPM (abnormal spindle like microcephaly associated) at MCPH5, CENPJ (centromeric protein J) at MCPH6 and STIL corresponding to MCPH7.4 Mutations at any of these loci are indistinguishable clinically.4