Primary Autosomal Recessive Microcephaly: MCPH5 Maps to 1q25-q32

A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2.

Molecular and Cellular Basis of Autosomal Recessive Primary Microcephaly

Autosomal recessive primary microcephaly (MCPH) is a rare hereditary neurodevelopmental disorder characterized by a marked reduction in brain size and intellectual disability. MCPH is genetically heterogeneous and can exhibit additional clinical features that overlap with related disorders including Seckel syndrome, Meier-Gorlin syndrome, and microcephalic osteodysplastic dwarfism. In this revi...

Expression analysis of the autosomal recessive primary microcephaly genes MCPH1 (microcephalin) and MCPH5 (ASPM, abnormal spindle-like, microcephaly associated) in human malignant gliomas.

Patients with autosomal recessive primary microcephaly have a small but architecturally normal brain containing a reduced number of neurons. Microcephalin and ASPM are two of the genes causing this disease. Both are centrosomal proteins involved in cell cycle regulation. Whereas microcephalin is a component of the DNA damage response and a repressor of telomerase function, ASPM is required for ...

Microcephaly-cardiomyopathy: a new autosomal recessive phenotype?

A distinctive phenotype of severe microcephaly and self-limiting dilated cardiomyopathy has been observed in two sibs suggesting autosomal recessive inheritance. Mental retardation, delayed developmental milestones, and minor dysmorphism were additional features.

a novel deletion mutation in aspm gene in an iranian family with autosomal recessive primary microcephaly

how to cite this article: akbarizar e, ebrahimpour m, akbari s, arzhanghi s, abedini ss, najmabadi h, kahrizi k. a novel deletion mutation in aspm gene in an iranian family with autosomal recessive primary microcephaly. iran j child neurol.  2013 spring;7(2):23-30.   objective autosomal recessive primary microcephaly (mcph) is a neurodevelopmental and genetically heterogeneous disorder with dec...