Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations.
نویسندگان
چکیده
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 Medicine Berlin; Berlin, Germany c Institute of Cell Biology and Neurobiology; Charité University Medicine Berlin; Berlin, Germany Published online: 01 Apr 2014.
منابع مشابه
Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory.
Primary Autosomal Recessive Microcephaly (MCPH) is characterized by congenital microcephaly usually without additional clinical findings. The most common gene implicated in MCPH is ASPM and a large percentage of mutations described have been homozygous and in consanguineous families primarily of East Asian and Middle Eastern origin. ASPM sequencing was performed on 400 patients between the year...
متن کاملLETTER TO JMG ASPM mutations identified in patients with primary microcephaly and seizures
Background: Human autosomal recessive primary microcephaly (MCPH) is a heterogeneous disorder with at least six genetic loci (MCPH1–6), with MCPH5, caused by ASPM mutation, being the most common. Despite the high prevalence of epilepsy in microcephaly patients, microcephaly with frequent seizures has been excluded from the ascertainment of MCPH. Here, we report a pedigree with multiple affected...
متن کاملASPM mutations identified in patients with primary microcephaly and seizures.
BACKGROUND Human autosomal recessive primary microcephaly (MCPH) is a heterogeneous disorder with at least six genetic loci (MCPH1-6), with MCPH5, caused by ASPM mutation, being the most common. Despite the high prevalence of epilepsy in microcephaly patients, microcephaly with frequent seizures has been excluded from the ascertainment of MCPH. Here, we report a pedigree with multiple affected ...
متن کاملProtein-truncating mutations in ASPM cause variable reduction in brain size.
Mutations in the ASPM gene at the MCPH5 locus are expected to be the most common cause of human autosomal recessive primary microcephaly (MCPH), a condition in which there is a failure of normal fetal brain development, resulting in congenital microcephaly and mental retardation. We have performed the first comprehensive mutation screen of the 10.4-kb ASPM gene, identifying all 19 mutations in ...
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 ...
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ورودعنوان ژورنال:
- Cell cycle
دوره 13 10 شماره
صفحات -
تاریخ انتشار 2014