A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype

• Published in: Molecular genetics & genomic medicine Vol. 7; no. 9; pp. e865 - n/a
• Main Authors: Hancarova, Miroslava, Babikyan, Davit, Bendova, Sarka, Midyan, Susanna, Prchalova, Darina, Shahsuvaryan, Gohar, Stranecky, Viktor, Sarkisian, Tamara, Sedlacek, Zdenek
• Format: Journal Article
• Language: English
• Published: United States John Wiley & Sons, Inc 01.09.2019; John Wiley and Sons Inc; Wiley
• Subjects: Adult; Age; Alleles; Armenia - epidemiology; Autism; C12orf4; Cell growth; Child, Preschool; Clinical Report; Clinical Reports; Consanguinity; Defects; Delineation; DNA Mutational Analysis; Etiology; exome sequencing; Facies; Genes; Genes, Recessive; Genotype & phenotype; Genotypes; Heterogeneity; Homozygote; Humans; Hypotonia; Intellectual disabilities; intellectual disability; Intellectual Disability - diagnosis; Intellectual Disability - genetics; Intracellular Signaling Peptides and Proteins - genetics; Kinases; Male; Mood; Patients; Pedigree; Phenotype; Phenotypes; Phenotyping; Polymorphism, Single Nucleotide; Proteins; Signs and symptoms; Whole Exome Sequencing; Armenia; exome sequencing; consanguinity; C12orf4; intellectual disability

Background Intellectual disability (ID) is a feature of many rare diseases caused by thousands of genes. This genetic heterogeneity implies that pathogenic variants in a specific gene are found only in a small number of patients, and difficulties arise in the definition of prevailing genotype and ch...