Document Detail


Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation.
MedLine Citation:
PMID:  12362027     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND AND OBJECTIVES: Locus heterogeneity is well established in autosomal recessive primary microcephaly (MCPH) and to date five loci have been mapped. However, the relative contributions of these loci have not been assessed and genotype-phenotype correlations have not been investigated. DESIGN: A study population of 56 consanguineous families resident in or originating from northern Pakistan was ascertained and assessed by the authors. A panel of microsatellite markers spanning each of the MCPH loci was designed, against which the families were genotyped. RESULTS: The head circumference of the 131 affected subjects ranged from 4 to 14 SD below the mean, but there was little intrafamilial variation among affecteds (+/- 1 SD). MCPH5 was the most prevalent, with 24/56 families consistent with linkage; 2/56 families were compatible with linkage to MCPH1, 10/56 to MCPH2, 2/56 to MCPH3, none to MCPH4, and 18/56 did not segregate with any of the loci. CONCLUSIONS: MCPH5 is the most common locus in this population. On clinical grounds alone, the phenotype of families linked to each MCPH locus could not be distinguished. We have also shown that further MCPH loci await discovery with a number of families as yet unlinked.
Authors:
E Roberts; D J Hampshire; L Pattison; K Springell; H Jafri; P Corry; J Mannon; Y Rashid; Y Crow; J Bond; C G Woods
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of medical genetics     Volume:  39     ISSN:  1468-6244     ISO Abbreviation:  J. Med. Genet.     Publication Date:  2002 Oct 
Date Detail:
Created Date:  2002-10-03     Completed Date:  2002-12-13     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  718-21     Citation Subset:  IM    
Affiliation:
Molecular Medicine Unit, University of Leeds, Leeds, UK.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Child
Child, Preschool
Consanguinity
Female
Genes, Recessive / genetics*
Genetic Heterogeneity*
Genetic Markers / genetics*
Genetic Variation / genetics*
Humans
Infant
Infant, Newborn
Male
Mental Retardation / genetics
Microcephaly / genetics*
Microsatellite Repeats / genetics
Middle Aged
Phenotype
Chemical
Reg. No./Substance:
0/Genetic Markers
Comments/Corrections

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