Primary microcephaly caused by novel compound heterozygous mutations in ASPM
نویسندگان
چکیده
منابع مشابه
Progressive microcephaly is caused by compound-heterozygous mutations in QARS.
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures Zhang et al. (2014) The American Journal of Human Genetics;94(4):547-558.
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 کاملCartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutations.
Cartilage-hair hypoplasia is a rare, autosomal recessive skeletal dysplasia, caused by mutations in the RMRP gene. The skeletal abnormalities include irregular metaphyses and cone shaped epiphyses of the hands. Molecular diagnosis confirmed two novel RMRP mutations in a compound heterozygous state in two siblings with this condition.
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 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...
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ژورنال
عنوان ژورنال: Human Genome Variation
سال: 2018
ISSN: 2054-345X
DOI: 10.1038/hgv.2018.15