Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation
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چکیده
منابع مشابه
Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation
BACKGROUND Primary autosomal recessive microcephaly (MCPH) is a rare neurodevelopmental disorder that results in severe microcephaly at birth with pronounced reduction in brain volume, particularly of the neocortex, simplified cortical gyration and intellectual disability. Homozygous mutations in the Cyclin-dependent kinase 5 regulatory subunit-associated protein 2 gene CDK5RAP2 are the cause o...
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...
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 کاملA Novel Deletion Mutation in ASPM Gene in an Iranian Family with Autosomal Recessive Primary Microcephaly
OBJECTIVE Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental and genetically heterogeneous disorder with decreased head circumference due to the abnormality in fetal brain growth. To date, nine loci and nine genes responsible for the situation have been identified. Mutations in the ASPM gene (MCPH5) is the most common cause of MCPH. The ASPM gene with 28 exons is essential ...
متن کاملA Novel Nonsense CDK5RAP2 Mutation in a Somali Child With Primary Microcephaly and Sensorineural Hearing Loss
Primary microcephaly is a genetically heterogeneous condition characterized by reduced head circumference (-3 SDS or more) and mild-to-moderate learning disability. Here, we describe clinical and molecular investigations of a microcephalic child with sensorineural hearing loss. Although consanguinity was unreported initially, detection of 13.7 Mb of copy neutral loss of heterozygosity (cnLOH) o...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2013
ISSN: 1750-1172
DOI: 10.1186/1750-1172-8-59