ArticleAmerican journal of medical genetics. Part A2012
A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss.
Article in American journal of medical genetics. Part A, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
What it found
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Who cites it
23 citing papers in PubMed, 40 citations in OpenAlex.
- Rare genetic causes of primary microcephaly in two Saudi families identified via whole-exome sequencing: Genomic and phenotypic delineation of pathogenicMolecular genetics and metabolism reports · 2026Article
- Article
- Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size.Cells · 2023Review
- Centrosome function is critical during terminal erythroid differentiation.The EMBO journal · 2022Article
- Detection and identification of cis-regulatory elements using change-point and classification algorithms.BMC genomics · 2022Article
- Multifaceted roles of centrosomes in development, health, and disease.Journal of molecular cell biology · 2021Review
- Time is of the essence: the molecular mechanisms of primary microcephaly.Genes & development · 2021Review
- An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.Molecular genetics & genomic medicine · 2020Article
- Dissecting the Genetic and Etiological Causes of Primary Microcephaly.Frontiers in neurology · 2020Review
- Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH).Genetics research · 2018Review
- Organoid technology for brain and therapeutics research.CNS neuroscience & therapeutics · 2017Review
- An update on stem cell biology and engineering for brain development.Molecular psychiatry · 2017Review
- CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly.Molecular genetics and genomics : MGG · 2017Article
- Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum.European journal of human genetics : EJHG · 2016Article
- Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability.Journal of human genetics · 2016Article
- Chromosomal Rearrangements as Barriers to Genetic Homogenization between Archaic and Modern Humans.Molecular biology and evolution · 2015Article
- Mutations in CDK5RAP2 cause Seckel syndrome.Molecular genetics & genomic medicine · 2015Article
- Loss of CDK5RAP2 affects neural but not non-neural mESC differentiation into cardiomyocytes.Cell cycle (Georgetown, Tex.) · 2015Article
- Species-Specific Expression of Full-Length and Alternatively Spliced Variant Forms of CDK5RAP2.PloS one · 2015Article
- Molecular genetics of human primary microcephaly: an overview.BMC medical genomics · 2015Review
Corrections and comments
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Authors and funding
13 authors at 6 institutions in 4 countries.
Funding
Abstract
Primary microcephaly is a genetically heterogeneous condition characterized by reduced head circumference (-3 SDS or more) and mild-to-moderate learning disability. Here, we describe clinical and molecular investigations of a microcephalic child with sensorineural hearing loss. Although consanguinity was unreported initially, detection of 13.7 Mb of copy neutral loss of heterozygosity (cnLOH) on chromosome 9 implicated the CDK5RAP2 gene. Targeted sequencing identified a homozygous E234X mutation, only the third mutation to be described in CDK5RAP2, the first in an individual of non-Pakistani descent. Sensorineural hearing loss is not generally considered to be consistent with autosomal recessive microcephaly and therefore it seems likely that the deafness in this individual is caused by the co-occurrence of a further gene mutation, independent of CDK5RAP2. Nevertheless, further detailed clinical descriptions of rare CDK5RAP2 patients, including hearing assessments will be needed to resolve fully the phenotypic range associated with mutations in this gene. This study also highlights the utility of SNP-array testing to guide disease gene identification where an autosomal recessive condition is plausible.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.