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dc.contributor.authorAydin, Hatip
dc.contributor.authorGungor, Serdal
dc.contributor.authorCeylan, Ahmet C
dc.contributor.authorBozdogan, Sevcan
dc.contributor.authorOzalp, Ozge
dc.contributor.authorCicek, Salih
dc.contributor.authorAslan, Huseyin
dc.contributor.authorYalcintepe, Sinem
dc.contributor.authorTopcu, Vehap
dc.contributor.authorBayram, Yavuz
dc.contributor.authorGrochowski, Christopher M
dc.contributor.authorJolly, Angad
dc.contributor.authorDawood, Moez
dc.contributor.authorDuan, Ruizhi
dc.contributor.authorJhangiani, Shalini N
dc.contributor.authorDoddapaneni, Harsha
dc.contributor.authorHu, Jianhong
dc.contributor.authorMuzny, Donna M
dc.contributor.authorMarafi, Dana
dc.contributor.authorAkdemir, Zeynep Coban
dc.contributor.authorKaraca, Ender
dc.contributor.authorCarvalho, Claudia M B
dc.contributor.authorGibbs, Richard A
dc.contributor.authorPosey, Jennifer E
dc.contributor.authorLupski, James R
dc.contributor.authorPehlivan, Davut
dc.contributor.authorMitani, Tadahiro
dc.contributor.authorIsikay, Sedat
dc.contributor.authorGezdirici, Alper
dc.contributor.authorGulec, Elif Yilmaz
dc.contributor.authorPunetha, Jaya
dc.contributor.authorFatih, Jawid M
dc.contributor.authorHerman, Isabella
dc.contributor.authorAkay, Gulsen
dc.contributor.authorDu, Haowei
dc.contributor.authorCalame, Daniel G
dc.contributor.authorAyaz, Akif
dc.contributor.authorTos, Tulay
dc.contributor.authorYesil, Gözde
dc.contributor.authorGeckinli, Bilgen
dc.contributor.authorElcioglu, Nursel
dc.contributor.authorCandan, Sukru
dc.contributor.authorSezer, Ozlem
dc.contributor.authorErdem, Haktan Bagis
dc.contributor.authorGul, Davut
dc.contributor.authorDemiral, Emine
dc.contributor.authorElmas, Muhsin
dc.contributor.authorYesilbas, Osman
dc.contributor.authorKilic, Betul
dc.date.accessioned2021-12-10T11:02:19Z
dc.date.available2021-12-10T11:02:19Z
dc.date.issued2021
dc.identifier.citationMitani T., Isikay S., Gezdirici A., Gulec E. Y. , Punetha J., Fatih J. M. , Herman I., Akay G., Du H., Calame D. G. , et al., "High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.", American journal of human genetics, cilt.108, sa.10, ss.1981-2005, 2021
dc.identifier.issn0002-9297
dc.identifier.othervv_1032021
dc.identifier.otherav_63f1734a-c98f-4371-86cb-0a84f04a30d0
dc.identifier.urihttp://hdl.handle.net/20.500.12627/171087
dc.identifier.urihttps://doi.org/10.1016/j.ajhg.2021.08.009
dc.description.abstractNeurodevelopmental disorders (NDD5) are clinically and genetically heterogenous; many such disorders are secondary to perturbation in brain development and/or function. The prevalence of NDD5 is > 3%, resulting in significant sociocultural and economic challenges to society. With recent advances in family-based genomics, rare-variant analyses, and further exploration of the Clan Genomics hypothesis, there has been a logarithmic explosion in neurogenetic "disease-associated genes" molecular etiology and biology of NDD5; however, the majority of NDD5 remain molecularly undiagnosed. We applied genome-wide screening technologies, including exome sequencing (ES) and whole-genome sequencing (WGS), to identify the molecular etiology of 234 newly enrolled subjects and 20 previously unsolved Turkish NDD families. In 176 of the 234 studied families (75.2%), a plausible and genetically parsimonious molecular etiology was identified. Out of 176 solved families, deleterious variants were identified in 218 distinct genes, further documenting the enormous genetic heterogeneity and diverse perturbations in human biology underlying NDD5. We propose 86 candidate disease-trait-associated genes for an NDD phenotype. Importantly, on the basis of objective and internally established variant prioritization criteria, we identified 51 families (51/176 = 28.9%) with multilocus pathogenic variation (MPV), mostly driven by runs of homozygosity (ROH5) - reflecting genomic segments/haplotypes that are identical-by-descent. Furthermore, with the use of additional bioinformatic tools and expansion of ES to additional family members, we established a molecular diagnosis in 5 out of 20 families (25%) who remained undiagnosed in our previously studied NDD cohort emanating from Turkey.
dc.language.isoeng
dc.subjectGENETİK VE HAYAT
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.titleHigh prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
dc.typeMakale
dc.relation.journalAmerican journal of human genetics
dc.contributor.department, ,
dc.identifier.volume108
dc.identifier.issue10
dc.identifier.startpage1981
dc.identifier.endpage2005
dc.contributor.firstauthorID2751119


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