ArticleAmerican journal of human genetics2012
A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function.
Article in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 96 papers.
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Who cites it
96 citing papers in PubMed, 173 citations in OpenAlex.
- Variants in CEP135 Cause Congenital Microcephaly and Primary Ciliary Dyskinesia.Pediatric pulmonology · 2026Article
- Single-cell inflammatory signaling defines a novel CEP135Translational oncology · 2026Article
- Structure and assembly of the A-C linker connecting microtubule triplets in centrioles.Science advances · 2025Article
- Identification of mutation in ASPM gene in microcephaly families from Khyber Pakhtunkhwa.Molecular biology reports · 2025Article
- Review
- Loss of Cep135 causes oligoasthenoteratozoospermia and male infertility in mice.Cellular and molecular life sciences : CMLS · 2025Article
- Expanding the mutational spectrum of congenital microcephaly in Pakistani families.Frontiers in genetics · 2025Article
- Lateral expansion of the mammalian cerebral cortex is related to anchorage of centrosomes in apical neural progenitors.Cerebral cortex (New York, N.Y. : 1991) · 2024Article
- Cep57 regulates human centrosomes through multivalent interactions.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size.Cells · 2023Review
- Review
- Article
- Emerging roles of centrosome cohesion.Open biology · 2022Review
- Review
- Article
- Traip controls mushroom body size by suppressing mitotic defects.Development (Cambridge, England) · 2022Article
- Multifaceted Microcephaly-Related Gene MCPH1.Cells · 2022Review
- Time is of the essence: the molecular mechanisms of primary microcephaly.Genes & development · 2021Review
- A HomozygousGenes · 2021Article
- BiallelicGenes · 2021Article
36 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
14 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal-recessive primary microcephaly (MCPH) is a rare congenital disorder characterized by intellectual disability, reduced brain and head size, but usually without defects in cerebral cortical architecture, and other syndromic abnormalities. MCPH is heterogeneous. The underlying genes of the seven known loci code for centrosomal proteins. We studied a family from northern Pakistan with two microcephalic children using homozygosity mapping and found suggestive linkage for regions on chromosomes 2, 4, and 9. We sequenced two positional candidate genes and identified a homozygous frameshift mutation in the gene encoding the 135 kDa centrosomal protein (CEP135), located in the linkage interval on chromosome 4, in both affected children. Post hoc whole-exome sequencing corroborated this mutation's identification as the causal variant. Fibroblasts obtained from one of the patients showed multiple and fragmented centrosomes, disorganized microtubules, and reduced growth rate. Similar effects were reported after knockdown of CEP135 through RNA interference; we could provoke them also by ectopic overexpression of the mutant protein. Our findings suggest an additional locus for MCPH at HSA 4q12 (MCPH8), further strengthen the role of centrosomes in the development of MCPH, and place CEP135 among the essential components of this important organelle in particular for a normal neurogenesis.
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