Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability

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dc.contributor.authorDuman, Duygu
dc.contributor.authorÇelik, Pelin
dc.contributor.authorBalcı, Özge
dc.contributor.departmentSağlık Bilimleri Fakültesitr_TR
dc.date.accessioned2019-07-01T08:46:33Z
dc.date.available2019-07-01T08:46:33Z
dc.date.issued2018
dc.description.abstractThe etiology of intellectual disability (ID) is heterogeneous including a variety of genetic and environmental causes. Historically, most research has not focused on autosomal recessive ID (ARID), which is a significant cause of ID, particularly in areas where parental consanguinity is common. Identification of genetic causes allows for precision diagnosis and improved genetic counseling. We performed whole exome sequencing to 21 Turkish families, seven multiplex and 14 simplex, with nonsyndromic ID. Based on the presence of multiple affected siblings born to unaffected parents and/or shared ancestry, we consider all families as ARID. We revealed the underlying causative variants in seven families in MCPH1 (c.427dupA, p.T143Nfs*5), WDR62 (c.3406C>T, p.R1136*), ASPM (c.5219_5225delGAG-GATA, p.R1740Tfs*7), RARS (c.1588A>G, p.T530A), CC2D1A (c.811delG, p.A271Pfs*30), TUSC3 (c.793C>T, p.Q265*) and ZNF335 (c.808C>T, p.R270C and c.3715C>A, p.Q1239K) previously linked with ARID. Besides ARID genes, in one family, affected male siblings were hemizygous for PQBP1 (c.459_462delAGAG, p.R153Sfs*41) and in one family the proband was female and heterozygous for X-chromosomal SLC9A6 (c.1631+1G>A) variant. Each of these variants, except for those in MCPH1 and PQBP1, have not been previously published. Additionally in one family, two affected children were homozygous for the c.377G>A (p.W126*) variant in the FAM183A, a gene not previously associated with ARID. No causative variants were found in the remaining 11 families. A wide variety of variants explain half of families with ARID. FAM183A is a promising novel candidate gene for ARID.tr_TR
dc.description.indexWos
dc.description.indexPubmed
dc.identifier.endpage13tr_TR
dc.identifier.issue11tr_TR
dc.identifier.other10.1371/journal.pone.0208324
dc.identifier.startpage01tr_TR
dc.identifier.urihttp://hdl.handle.net/20.500.12575/67009
dc.identifier.volume13tr_TR
dc.language.isoentr_TR
dc.relation.journalPlos Onetr_TR
dc.subjectCopy-number variationtr_TR
dc.subjectMental-retardationtr_TR
dc.subjectMutationstr_TR
dc.subjectWdr62tr_TR
dc.titleIdentification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disabilitytr_TR
dc.typeArticletr_TR

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