ArticleAmerican journal of human genetics2000
A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed, 107 citations in OpenAlex.
- Expanding the genetic spectrum of autosomal recessive microcephaly in Pakistani families.BMC neurology · 2026Article
- Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size.Cells · 2023Review
- Hominoid SVA-lncRNA AK057321 targets human-specific SVA retrotransposons in SCN8A and CDK5RAP2 to initiate neuronal maturation.Communications biology · 2023Article
- Emerging roles of centrosome cohesion.Open biology · 2022Review
- Emerging Methods in Modeling Brain Development and Disease with Human Pluripotent Stem Cells.Methods in molecular biology (Clifton, N.J.) · 2022Article
- Time is of the essence: the molecular mechanisms of primary microcephaly.Genes & development · 2021Review
- The journey of Zika to the developing brain.Molecular biology reports · 2020Review
- Dissecting the Genetic and Etiological Causes of Primary Microcephaly.Frontiers in neurology · 2020Review
- Review
- CDK5RAP2 Is Required to Maintain the Germ Cell Pool during Embryonic Development.Stem cell reports · 2017Article
- Whole exome sequencing identifies a novel homozygous frameshift mutation in the ASPM gene, which causes microcephaly 5, primary, autosomal recessive.F1000Research · 2017Article
- Adaptive evolution of interleukin-3 (IL3), a gene associated with brain volume variation in general human populations.Human genetics · 2016Article
- MCPH1: a window into brain development and evolution.Frontiers in cellular neuroscience · 2015Review
- Novel Alternative Splice Variants of Mouse Cdk5rap2.PloS one · 2015Article
- Molecular and cellular basis of autosomal recessive primary microcephaly.BioMed research international · 2014Review
- Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation.Orphanet journal of rare diseases · 2013Article
- Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation.Orphanet journal of rare diseases · 2013Article
- A Novel Deletion Mutation in ASPM Gene in an Iranian Family with Autosomal Recessive Primary Microcephaly.Iranian journal of child neurology · 2013Article
- A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss.American journal of medical genetics. Part A · 2012Article
- OSVZ progenitors in the human cortex: an updated perspective on neurodevelopmental disease.Current opinion in neurobiology · 2012Review
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary autosomal recessive microcephaly is a clinical diagnosis of exclusion in an individual with a head circumference >/=4 SDs below the expected age-and-sex mean. There is associated moderate mental retardation, and neuroimaging shows a small but structurally normal cerebral cortex. The inheritance pattern in the majority of cases is considered to be autosomal recessive. Although genetic heterogeneity for this clinical phenotype had been expected, this has only recently been demonstrated, with the mapping of two loci for autosomal recessive primary microcephaly: MCPH1 at 8p and MCPH2 at 19q. We have studied a large multiaffected consanguineous pedigree, using a whole-genome search, and have identified a third locus, MCPH3 at 9q34. The minimal critical region is approximately 12 cM, being defined by the markers cen-D9S1872-D9S159-tel, with a maximum two-point LOD score of 3.76 (recombination fraction 0) observed for the marker D9S290.
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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.