ArticleAmerican journal of human genetics2021
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
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Article in American journal of human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers.
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60 citing papers in PubMed, 99 citations in OpenAlex.
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Authors and funding
50 authors at 20 institutions in 3 countries.
Tadahiro MitaniDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Sedat IsikayDepartment of Pediatric Neurology, Faculty of Medicine, University of Gaziantep, Gaziantep 27310, Turkey.
Alper GezdiriciDepartment of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul 34480, Turkey.
Elif Yilmaz GulecDepartment of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, 34303 Istanbul, Turkey.
Jaya PunethaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jawid M FatihDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Isabella HermanDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
Gulsen AkayDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Haowei DuDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Daniel G CalameDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
Akif AyazDepartment of Medical Genetics, Adana City Training and Research Hospital, Adana 01170, Turkey; Departments of Medical Genetics, School of Medicine, Istanbul Medipol University, Istanbul 34810, Turkey.
Tulay TosUniversity of Health Sciences Zubeyde Hanim Research and Training Hospital of Women's Health and Diseases, Department of Medical Genetics, Ankara 06080, Turkey.
Gozde YesilIstanbul Faculty of Medicine, Department of Medical Genetics, Istanbul University, Istanbul 34093, Turkey.
Hatip AydinCentre of Genetics Diagnosis, Zeynep Kamil Maternity and Children's Training and Research Hospital, Istanbul, Turkey; Private Reyap Istanbul Hospital, Istanbul 34515, Turkey.
Bilgen GeckinliCentre of Genetics Diagnosis, Zeynep Kamil Maternity and Children's Training and Research Hospital, Istanbul, Turkey; Department of Medical Genetics, School of Medicine, Marmara University, Istanbul 34722, Turkey.
Nursel ElciogluDepartment of Pediatric Genetics, School of Medicine, Marmara University, Istanbul 34722, Turkey; Eastern Mediterranean University Medical School, Magosa, Mersin 10, Turkey.
Sukru CandanMedical Genetics Section, Balikesir Ataturk Public Hospital, Balikesir 10100, Turkey.
Ozlem SezerDepartment of Medical Genetics, Samsun Education and Research Hospital, Samsun 55100, Turkey.
Haktan Bagis ErdemDepartment of Medical Genetics, University of Health Sciences, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara 06110, Turkey.
Davut GulDepartment of Medical Genetics, Gulhane Military Medical School, Ankara 06010, Turkey.
Emine DemiralDepartment of Medical Genetics, School of Medicine, University of Inonu, Malatya 44280, Turkey.
Muhsin ElmasDepartment of Medical Genetics, Afyon Kocatepe University, School of Medicine, Afyon 03218, Turkey.
Osman YesilbasDivision of Critical Care Medicine, Department of Pediatrics, School of Medicine, Bezmialem Foundation University, Istanbul 34093, Turkey; Department of Pediatrics, Division of Pediatric Critical Care Medicine, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.
Betul KilicDepartment of Pediatrics and Pediatric Neurology, Faculty of Medicine, Inonu University, Malatya 34218, Turkey.
Serdal GungorDepartment of Pediatrics and Pediatric Neurology, Faculty of Medicine, Inonu University, Malatya 34218, Turkey.
Ahmet C CeylanDepartment of Medical Genetics, University of Health Sciences, Ankara Training and Research Hospital, Ankara 06110, Turkey.
Sevcan BozdoganDepartment of Medical Genetics, Cukurova University Faculty of Medicine, Adana 01330, Turkey.
Ozge OzalpDepartment of Medical Genetics, Adana City Training and Research Hospital, Adana 01170, Turkey.
Salih CicekDepartment of Medical Genetics, Konya Training and Research Hospital, Konya 42250, Turkey.
Huseyin AslanDepartment of Medical Genetics, Adana City Training and Research Hospital, Adana 01170, Turkey.
Sinem YalcintepeDepartment of Medical Genetics, School of Medicine, Trakya University, Edirne 22130, Turkey.
Vehap TopcuDepartment of Medical Genetics, Ankara City Hospital, Ankara 06800, Turkey.
Yavuz BayramDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Christopher M GrochowskiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Angad JollyDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Scientist Training Program, Baylor College of Medicine, Houston, TX 77030, USA.
Moez DawoodDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Scientist Training Program, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Ruizhi DuanDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Shalini N JhangianiHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Harsha DoddapaneniHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Jianhong HuHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Donna M MuznyHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Baylor-Hopkins Center for Mendelian Genomics
Dana MarafiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Zeynep Coban AkdemirDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Ender KaracaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Claudia M B CarvalhoDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Richard A GibbsDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Jennifer E PoseyDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
James R LupskiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: jlupski@bcm.edu.
Davut PehlivanDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: pehlivan@bcm.edu.
Baylor College of Medicine · USInonu University · TRZeynep Kamil Hospital · TRAfyon Kocatepe University · TRBalıkesir University · TRCukurova University · TRGaziantep University · TRİstanbul Başakşehir Çam ve Sakura Şehir Hastanesiİstanbul Kanuni Sultan Süleyman Eğitim ve Araştırma Hastanesi · TRIstanbul Medipol University · TRIstanbul University · TRKaradeniz Technical University · TRMarmara University · TRMemorial Ankara Hospital · TRMinistry of Health · TRNeurological Research Institute · USSağlık Bilimleri Üniversitesi · TRSamsun University · TRTexas Children's Hospital · USTrakya University · TR
Funding
The Human Genome Sequencing CenterU54HG003273 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2004 to 2015
$341.3MBaylor-Johns Hopkins Center for Mendelian GeneticsUM1HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2016 to 2020
$14.5MFrequency of variants of unknown significance by ancestry groups in the All of Us Research Program cohortU01HG011758 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI RICHARD A GIBBS, JAMES R. LUPSKI · 2021 to 2026
$13.8MMEDICAL GENETICS RESEARCH FELLOWSHIP PROGRAMT32GM007526 · NIGMS · BAYLOR COLLEGE OF MEDICINE · PI Brendan Lee · 1985 to 2026
$11.4MSTRUCTURAL VARIATION IN NEUROLOGICAL DISEASER35NS105078 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI LUPSKI, JAMES R. · 2018 to 2025
$6.0MUncovering inversion formation in the human genome and its impact to disease.R01GM132589 · NIGMS · PACIFIC NORTHWEST RESEARCH INSTITUTE · PI FONSECA, CLAUDIA CARVALHO · 2020 to 2024
$3.5MIndividual genomic analyses to discover the molecular basis and mechanisms contributing to adult-onset diseaseK08HG008986 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI POSEY, JENNIFER ELLEN · 2017 to 2021
$831kNHGRI NIH HHS K08 HG008986NHGRI NIH HHS U01 HG011758NHGRI NIH HHS U54 HG003273NHGRI NIH HHS UM1 HG006542NIGMS NIH HHS R01 GM132589NIGMS NIH HHS T32 GM007526NINDS NIH HHS R35 NS105078
Abstract
Neurodevelopmental disorders (NDDs) are clinically and genetically heterogenous; many such disorders are secondary to perturbation in brain development and/or function. The prevalence of NDDs 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 NDDs; however, the majority of NDDs 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 NDDs. 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 (ROHs) - 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.
Indexed as
MutationPhenotypeAdolescentAdultChildChild, PreschoolCohort StudiesExome SequencingFemaleGenomicsHumansInfantInfant, NewbornMaleMiddle AgedNeurodevelopmental DisordersAlu-Alu mediated rearrangement (AAMR)exome reanalysisidentity-by-descent (IBD)multilocus pathogenic variationneurodevelopmental disordersruns of homozygosity (ROH)whole-genome sequencing
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