Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly
نویسندگان
چکیده
منابع مشابه
Microcephaly-cardiomyopathy: a new autosomal recessive phenotype?
A distinctive phenotype of severe microcephaly and self-limiting dilated cardiomyopathy has been observed in two sibs suggesting autosomal recessive inheritance. Mental retardation, delayed developmental milestones, and minor dysmorphism were additional features.
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
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 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...
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 کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Cell Cycle
سال: 2011
ISSN: 1538-4101,1551-4005
DOI: 10.4161/cc.10.17.16871