Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders
Using exome sequencing as a first-line diagnostic approach in consanguineous families with neurodevelopmental disorders is recommended because of the high diagnostic yield of 36.8% and the possibility of identifying treatable diseases or the coexistence of several disease-causing variants.
A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.
Null Mutation in PGAP1 Impairing Gpi-Anchor Maturation in Patients with Intellectual Disability and Encephalopathy
The results indicate that GPI-APs were expressed with abnormal GPI structure due to a null mutation in the remodeling gene PGAP1, and indicate that not only the cell surface expression levels but also the fine structure of G PI-anchors is important for the normal neurological development.
A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.
Recurrent null mutation in SPG20 leads to Troyer syndrome.
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)
It is proposed that JBTS and other ciliopathies may in part result from cell polarity defects, and loss of TALPID3 (KIAA0586) function in animal models causes abnormal tissue polarity, centrosome length and orientation, and centriolar satellites.
Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation.
Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly.
Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia
SVBP is not only involved in angiogenesis, but also has vital functions in the central nervous system and is associated with biallelic loss-of-function variants in SVBP that lead to intellectual disability.