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Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways
WDR62 is associated with the spindle pole and is mutated in human microcephaly
In human and mouse embryonic brain, it was found that WDR62 expression was restricted to neural precursors undergoing mitosis, lending support to the hypothesis that the exquisite control of the cleavage furrow orientation in mammalian neural precursor cell mitosis is critical both in causing MCPH when perturbed and, when modulated, generating the evolutionarily enlarged human brain.
Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.
Inactivating mutations in the Ankyrin 3 (ANK3) gene in patients with severe cognitive deficits support the suggested association of ANK3 with various neuropsychiatric disorders and illustrate the genetic and molecular relation between a wide range of neurodevelopmental disorders.
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.
Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.
Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families
The high yield of AR mutations for ID indicated that this approach has excellent clinical potential and should inform clinical diagnostics, including clinical whole exome and genome sequencing, for populations in which consanguinity is common.
Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74.
Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: novel sequence variants in ASPM gene
Human autosomal recessive primary microcephaly (MCPH) is a rare genetic disorder in which affected individuals are born with reduced brain size and Mutations in the ASPM gene at the MCPH5 locus appear to be the most common cause.