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Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders
TLDR
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. Expand
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.
TLDR
The phenotypic spectrum of the GPI-anchor deficiencies can be interpreted within the concept of a disease family, and it is proposed that the severity of the phenotype is dependent on the location of the altered protein in the biosynthesis chain. Expand
A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.
TLDR
The spectrum of clinical features associated with defects in plasmalogen biosynthesis is expanded to include FAR1 deficiency as a cause of syndromic severe intellectual disability with cataracts, epilepsy, and growth retardation but without rhizomelia. Expand
A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.
We report the natural history, clinical manifestations, genetics, and immunohematological findings in 14 patients from 11 families with ARPC1B deficiency, delineating the spectrum of the disease thatExpand
Null Mutation in PGAP1 Impairing Gpi-Anchor Maturation in Patients with Intellectual Disability and Encephalopathy
TLDR
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. Expand
Recurrent null mutation in SPG20 leads to Troyer syndrome.
TLDR
Current knowledge of Troyer syndrome is summarized, wider use of whole exome sequencing in routine diagnostics is proposed, and the same deletion that has been identified in the Omani kindred is identified, but haplotype analysis suggests a recurrent event, and not a founder mutation. Expand
Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation.
TLDR
It is concluded that truncating mutations in C12ORF65 lead to a variable phenotype with intellectual disability, spastic paraplegia, and ophthalmoplegia as common symptoms and a genotype-phenotype correlation between increasing length of the truncated protein and decreasing severity of symptoms. Expand
Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly.
TLDR
Co-immunoprecipitation in HeLa cells transfected with plasmids encoding TAF11 and TAF13 revealed that both variants indeed impaired formation of the TAF 13-TAF11 heterodimer, thus confirming the protein modeling analysis. Expand
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)
TLDR
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. Expand
SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss
TLDR
It is independently confirmed that bi-allelic pathogenic variants in SPATA5 cause a syndromic form of intellectual disability, and its clinical presentation is delineated. Expand
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