A Molecular Genetic Study of Autosomal Recessive Primary Microcephaly in three Pakistani Kindred
نویسندگان
چکیده
منابع مشابه
Linkage Study of Primary Microcephaly in Pakistani Kindred
Microcephaly is heterogeneous, autosomal recessive trait with reduced head circumference of at least 4 SD below age and sex means due to reduction in neuron production. The brain of microcephalic patient is architecturally normal but severe to mild mental retardation. It is rare disease affecting 2-2.5% of total population specifically in Asia and Arab where the incidence of cousin marriages is...
متن کاملMolecular 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...
متن کاملMutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly
BACKGROUND Autosomal recessive primary microcephaly is a disorder of neurogenic mitosis that causes reduction in brain size. It is a rare heterogeneous condition with seven causative genes reported to date. Mutations in WD repeat protein 62 are associated with autosomal recessive primary microcephaly with cortical malformations. This study was initiated to screen WDR62 mutations in four consang...
متن کاملGenetic dissection of two Pakistani families with consanguineous localized autosomal recessive hypotrichosis (LAH)
Objective(s): Genetic analysis of two consanguineous Pakistani families with localized autosomal recessive hypotrichosis was performed with the goal to establish genotype-phenotype correlation. Materials and Methods: Genomic DNA extraction had been done from peripheral blood samples. Extracted DNA was then subjected to PCR (polymerase chain reaction) for amplification. Linkage analysis was perf...
متن کاملa 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...
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ژورنال
عنوان ژورنال: Basic Sciences of Medicine
سال: 2012
ISSN: 2167-7344
DOI: 10.5923/j.medicine.20120103.01