microcephaly type 1, primary, autosomal recessive

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microcephaly type 1, primary, autosomal recessive

An autosomal recessive primary microcephaly (OMIM:251200) 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 MCPH1, which encodes a DNA damage response protein that may play a role in G2/M checkpoint arrest.
References in periodicals archive ?
Por su parte Bradbury (2006), confirma que los genes ASPM y MCPH1 estuvieron bajo presion selectiva durante la evolucion de los primates, pero que es poco probable que tengan gran efecto en la determinacion del tamano del cerebro.
2008), se intento demostrar si alelos derivados (por ejemplo, nuevas mutaciones) de los genes ASPM y MCPH1 principalmente, estan bajo presiones selectivas.
Los resultados que arrojaron los analisis indican que ninguno de los alelos derivados de ASPM y de MCPH1 esta asociado significativamente con el tamano de la cabeza, el coeficiente intelectual, la lectura, la pronunciacion, el almacenamiento fonologico o la memoria de trabajo.
Como puede observarse, este estudio es incompatible con lo sugerido por Hayward (2006), donde se afirmaba que ASPM y MCPH1 podrian estar relacionados con el tamano del cerebro y, eventualmente, con la cognicion.
2008) Recently-derived variants of brain-size genes ASPM, MCPH1, CDK5RAP and BRCA1 not associated with general cognition, reading or language.
21) Likewise, the genes ASPM and MCPH1 are implicated in the size of the brain, as well as PDYN, GLUD2, COX8, and CMAH which may change brain regulation, cerebral metabolism, and so forth.
Here we report a patient with sporadic MCPH from Northwest of Iran who was investigated for MCPH1 locus.
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.
A hallmark of MCPH1 mutation is detectable in routine cytogenetic analysis in which about 10-20% of the cells have prophase like chromosomes.
Both of these features are consistent with mutation in MCPH1 gene.
In this study, microsatellite based mapping was used for MCPH1 locus.