Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation
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Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation
BACKGROUND Autosomal recessive primary microcephaly (MCPH) is a rare neurodevelopmental disease with severe microcephaly at birth due to a pronounced reduction in brain volume and intellectual disability. Biallelic mutations in the WD repeat-containing protein 62 gene WDR62 are the genetic cause of MCPH2. However, the exact underlying pathomechanism of MCPH2 remains to be clarified. METHODS/R...
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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 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 کاملA Compound Heterozygous HPD Mutation in an Iranian Patient with Hypertyrosinemia Type III
Background and Aims: Hypertyrosinemia type 3 (HT3) is an inherited error in tyrosine metabolism caused by a mutation in the 4-hydroxyphenylpyruvate dioxygenase (HPD) gene. Here we report a one and half-year-old girl infant who was diagnosed based on increased serum tyrosine levels and increased urinary excretion of p-hydroxyphenyl derivatives. Materials and Methods: The proband was one and ha...
متن کاملPreviously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations.
Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations Hao Hu, Vanessa Suckow, Luciana Musante, Viola Roggenkamp, Nadine Kraemer, HansHilger Ropers, Christoph Hübner, Thomas F Wienker & Angela M Kaindl a Max Planck Institute for Molecular Genetics; Berlin, Germany b Department of Pediatric Neurology; Charité University Med...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2013
ISSN: 1750-1172
DOI: 10.1186/1750-1172-8-178