Primary autosomal recessive microcephaly 1

Common Name(s)

Primary autosomal recessive microcephaly 1

Primary microcephaly refers to the clinical finding of a head circumference less than 3 standard deviations (SD) below the age- and sex-related mean, present at birth. Primary microcephaly is a static developmental anomaly, distinguished from secondary microcephaly, which refers to a progressive neurodegenerative condition. Microcephaly is a disorder of fetal brain growth; individuals with microcephaly have small brains and almost always have mental retardation, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Additional clinical features may include short stature or mild seizures. MCPH is associated with a simplification of the cerebral cortical gyral pattern and a slight reduction in the volume of the white matter, consistent with the small size of the brain, but the architecture of the brain in general is normal, with no evidence of a neuronal migration defect (review by {29:Woods et al., 2005}). Most cases of primary microcephaly show an autosomal recessive mode of inheritance. Because MCPH directly affects neurogenesis, or neurogenic mitosis, rather than growth of the skull, some prefer the term 'micrencephaly' ({9:Hofman, 1984}). MCPH1 in particular is associated with premature chromosome condensation in cell studies ({4:Darvish et al., 2010}). Genetic Heterogeneity of Primary Microcephaly Primary microcephaly is a genetically heterogeneous disorder. See MCPH2 ({604317}), caused by mutation in the WDR62 gene ({613583}) on chromosome 19q13.12; MCPH3 ({604804}), caused by mutation in the CDK5RAP2 gene ({608201}) on 9q34; MCPH4 ({604321}), caused by mutation in the CASC5 gene ({609173}) on 15q14; MCPH5 ({608716}), caused by mutation in the ASPM gene ({605481}) on 1q; MCPH6 ({608393}), caused by mutation in the CENPJ gene ({609279}) on 13q12.2; MCPH7 ({612703}), caused by mutation in the STIL gene ({181590}) on 1p32; MCPH8 ({614673}), caused by mutation in the CEP135 gene ({611423}) on 4q; MCPH9 ({614852}), caused by mutation in the CEP152 gene ({613529}) on 15q21; MCPH10 ({615095}), caused by mutation in the ZNF335 gene ({610827}) on 20q13; MCPH11 ({615414}), caused by mutation in the PHC1 gene ({602978}) on 12p13; MCPH12 ({616080}), caused by mutation in the CDK6 gene ({603368}) on 7q21; and MCPH13 ({616051}), caused by mutation in the CENPE gene ({117143}) on 4q24.
 

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Condition Specific Organizations

Following organizations serve the condition "Primary autosomal recessive microcephaly 1" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Primary autosomal recessive microcephaly 1" returned 1 free, full-text research articles on human participants. First 3 results:

The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2.
 

Author(s): E Roberts, A P Jackson, A C Carradice, V J Deeble, J Mannan, Y Rashid, H Jafri, D P McHale, A F Markham, N J Lench, C G Woods

Journal: Eur. J. Hum. Genet.. ;7(7):815-20.

 

Primary microcephaly is a clinical diagnosis made when an individual has a head circumference of greater than 3 standard deviations below the age and sex matched population mean, mental retardation but without other associated malformations and no apparent aetiology. The majority ...

Last Updated: 20 Jan 2000

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