ASPM mutations identified in patients with primary microcephaly and seizures
نویسندگان
چکیده
منابع مشابه
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 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 کاملThe molecular landscape of ASPM mutations in primary microcephaly
BACKGROUND Autosomal recessive primary microcephaly (MCPH) is a model disease to study human neurogenesis. In affected individuals the brain grows at a reduced rate during fetal life resulting in a small but structurally normal brain and mental retardation. The condition is genetically heterogeneous with mutations in ASPM being most commonly reported. METHODS AND RESULTS We have examined this...
متن کاملInvestigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations.
To the Editor : Microcephaly is a condition which is defined by head circumference 3 SDs below the ageand sex-matched mean because of the reduced brain size (1, 2). Affected individuals suffer intellectual disability (ID) from mild to severe with any abnormalities or dysmorphic features. (1, 2). So far, eight autosomal recessive primary microcephaly (MCPH ) loci (MCPH1–MCPH8) have been mapped a...
متن کاملGenetic analysis of primary microcephaly in Indian families: novel ASPM mutations.
Patients with primary microcephaly, an autosomal recessive trait, have mild to severe mental retardation without any other neurological deficits. It is a genetically heterogeneous disorder with six known loci: MCPH1 to MCPH6. Only the genes for MCPH1 and MCPH5 have been identified so far. We have ascertained nine consanguineous families with primary microcephaly from India. To establish linkage...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2005
ISSN: 1468-6244
DOI: 10.1136/jmg.2004.027706