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  1. Article ; Online: Consanguinity and primary immunodeficiencies.

    Al-Herz, Waleed / Aldhekri, Hasan / Barbouche, Mohamed-Ridha / Rezaei, Nima

    Human heredity

    2014  Volume 77, Issue 1-4, Page(s) 138–143

    Abstract: Primary immunodeficiencies (PIDs) are a heterogeneous group of genetic disorders caused by defects in the immune system that predispose patients to infections, autoimmune diseases, lymphoproliferation and malignancies. Most PIDs are inherited in an ... ...

    Abstract Primary immunodeficiencies (PIDs) are a heterogeneous group of genetic disorders caused by defects in the immune system that predispose patients to infections, autoimmune diseases, lymphoproliferation and malignancies. Most PIDs are inherited in an autosomal recessive pattern; therefore, they are more common in areas with high rates of consanguineous marriage. Reports about PIDs from these areas have demonstrated a peculiar prevalence of more severe forms of diseases compared to other regions, and patients born to consanguineous parents have increased rates of morbidity and mortality compared to other patients. Individuals at high risk of having a child with a PID who wish to have a healthy child have limited options, these include prenatal diagnosis and pre-implantation genetic diagnosis. However, these options require a collaborative team of specialists and may not always be implemented due to geographic, religious, financial or social factors. The recent introduction of newborn-screening programs for a number of T and B lymphocyte deficiencies will facilitate early diagnosis and therapeutic interventions, which may include hematopoietic stem cell transplantation and intravenous immunoglobulin treatment. There is a need for the implementation of strategies to increase public awareness of the health risks associated with consanguineous marriage. It should be stressed that genetic counseling should be an important component of the care of patients with PIDs as well as their families.
    MeSH term(s) Consanguinity ; Genetic Testing/methods ; Humans ; Immunologic Deficiency Syndromes/epidemiology ; Immunologic Deficiency Syndromes/genetics ; Inheritance Patterns/genetics ; Pedigree ; Prenatal Diagnosis/methods
    Language English
    Publishing date 2014
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2424-7
    ISSN 1423-0062 ; 0001-5652
    ISSN (online) 1423-0062
    ISSN 0001-5652
    DOI 10.1159/000357710
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  2. Article ; Online: Janus kinase 3 deficiency caused by a homozygous synonymous exonic mutation that creates a dominant splice site.

    Platt, Craig D / Massaad, Michel J / Cangemi, Brittney / Schmidt, Birgitta / Aldhekri, Hasan / Geha, Raif S

    The Journal of allergy and clinical immunology

    2016  Volume 140, Issue 1, Page(s) 268–271.e6

    MeSH term(s) Alleles ; Biomarkers ; Biopsy ; DNA Mutational Analysis ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; Homozygote ; Humans ; Janus Kinase 3/deficiency ; Janus Kinase 3/genetics ; Janus Kinase 3/metabolism ; Male ; Mutation ; Pedigree ; Phenotype ; RNA Splice Sites ; Skin/metabolism ; Skin/pathology
    Chemical Substances Biomarkers ; RNA Splice Sites ; JAK3 protein, human (EC 2.7.10.2) ; Janus Kinase 3 (EC 2.7.10.2)
    Language English
    Publishing date 2016-12-10
    Publishing country United States
    Document type Letter ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 121011-7
    ISSN 1097-6825 ; 1085-8725 ; 0091-6749
    ISSN (online) 1097-6825 ; 1085-8725
    ISSN 0091-6749
    DOI 10.1016/j.jaci.2016.09.057
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  3. Article: Consanguinity and Primary Immunodeficiencies

    Al-Herz, Waleed / Aldhekri, Hasan / Barbouche, Mohamed-Ridha / Rezaei, Nima

    Human Heredity

    2014  Volume 77, Issue 1-4, Page(s) 138–143

    Abstract: Primary immunodeficiencies (PIDs) are a heterogeneous group of genetic disorders caused by defects in the immune system that predispose patients to infections, autoimmune diseases, lymphoproliferation and malignancies. Most PIDs are inherited in an ... ...

    Institution Department of Pediatrics, Faculty of Medicine, Kuwait University and Allergy and Clinical Immunology Unit, Pediatric Department, Al-Sabah Hospital, Kuwait City, Kuwait Section of Pediatric Allergy and Immunology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia Immunology Department, Institut Pasteur de Tunis and University Tunis El-Manar, Tunis, Tunisia Research Center for Immunodeficiencies, Children's Medical Center and Molecular Immunology Research Center, Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
    Abstract Primary immunodeficiencies (PIDs) are a heterogeneous group of genetic disorders caused by defects in the immune system that predispose patients to infections, autoimmune diseases, lymphoproliferation and malignancies. Most PIDs are inherited in an autosomal recessive pattern; therefore, they are more common in areas with high rates of consanguineous marriage. Reports about PIDs from these areas have demonstrated a peculiar prevalence of more severe forms of diseases compared to other regions, and patients born to consanguineous parents have increased rates of morbidity and mortality compared to other patients. Individuals at high risk of having a child with a PID who wish to have a healthy child have limited options, these include prenatal diagnosis and pre-implantation genetic diagnosis. However, these options require a collaborative team of specialists and may not always be implemented due to geographic, religious, financial or social factors. The recent introduction of newborn-screening programs for a number of T and B lymphocyte deficiencies will facilitate early diagnosis and therapeutic interventions, which may include hematopoietic stem cell transplantation and intravenous immunoglobulin treatment. There is a need for the implementation of strategies to increase public awareness of the health risks associated with consanguineous marriage. It should be stressed that genetic counseling should be an important component of the care of patients with PIDs as well as their families.
    Keywords Primary immunodeficiencies ; Genes ; Genetic counseling ; Consanguinity
    Language English
    Publishing date 2014-07-29
    Publisher S. Karger AG
    Publishing place Basel, Switzerland
    Document type Article
    Note Clinical Genetic Aspects of Consanguinity
    ZDB-ID 2424-7
    ISBN 978-3-318-02702-0 ; 978-3-318-02703-7 ; 3-318-02702-2 ; 3-318-02703-0
    ISSN 1423-0062 ; 0001-5652
    ISSN (online) 1423-0062
    ISSN 0001-5652
    DOI 10.1159/000357710
    Database Karger publisher's database

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  4. Article ; Online: Consanguinity and Primary Immunodeficiencies

    Al-Herz, Waleed / Aldhekri, Hasan / Barbouche, Mohamed-Ridha / Rezaei, Nima

    Human Heredity - International Journal of Human and Medical Genetics

    2014  Volume 77, Issue 1-4, Page(s) 138–143

    Abstract: Primary immunodeficiencies (PIDs) are a heterogeneous group of genetic disorders caused by defects in the immune system that predispose patients to infections, autoimmune diseases, lymphoproliferation and malignancies. Most PIDs are inherited in an ... ...

    Abstract Primary immunodeficiencies (PIDs) are a heterogeneous group of genetic disorders caused by defects in the immune system that predispose patients to infections, autoimmune diseases, lymphoproliferation and malignancies. Most PIDs are inherited in an autosomal recessive pattern; therefore, they are more common in areas with high rates of consanguineous marriage. Reports about PIDs from these areas have demonstrated a peculiar prevalence of more severe forms of diseases compared to other regions, and patients born to consanguineous parents have increased rates of morbidity and mortality compared to other patients. Individuals at high risk of having a child with a PID who wish to have a healthy child have limited options, these include prenatal diagnosis and pre-implantation genetic diagnosis. However, these options require a collaborative team of specialists and may not always be implemented due to geographic, religious, financial or social factors. The recent introduction of newborn-screening programs for a number of T and B lymphocyte deficiencies will facilitate early diagnosis and therapeutic interventions, which may include hematopoietic stem cell transplantation and intravenous immunoglobulin treatment. There is a need for the implementation of strategies to increase public awareness of the health risks associated with consanguineous marriage. It should be stressed that genetic counseling should be an important component of the care of patients with PIDs as well as their families.© 2014 S. Karger AG, Basel
    Keywords Consanguinity ; Primary immunodeficiencies ; Genes ; Genetic counseling
    Language English
    Publisher S. Karger AG
    Publishing place Basel
    Publishing country Switzerland
    Document type Article ; Online
    ZDB-ID 2424-7
    ISSN 1423-0062 ; 0001-5652 ; 0001-5652
    ISSN (online) 1423-0062
    ISSN 0001-5652
    DOI 10.1159/000357710
    Database Karger publisher's database

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  5. Article ; Online: EROS/CYBC1 mutations: Decreased NADPH oxidase function and chronic granulomatous disease.

    Thomas, David C / Charbonnier, Louis-Marie / Schejtman, Andrea / Aldhekri, Hasan / Coomber, Eve L / Dufficy, Elizabeth R / Beenken, Anne E / Lee, James C / Clare, Simon / Speak, Anneliese O / Thrasher, Adrian J / Santilli, Giorgia / Al-Mousa, Hamoud / Alkuraya, Fowzan S / Chatila, Talal A / Smith, Kenneth G C

    The Journal of allergy and clinical immunology

    2018  Volume 143, Issue 2, Page(s) 782–785.e1

    MeSH term(s) Animals ; Bone Marrow Transplantation ; Cells, Cultured ; Gene Knockdown Techniques ; Granulomatous Disease, Chronic/genetics ; Granulomatous Disease, Chronic/metabolism ; Humans ; Lymphohistiocytosis, Hemophagocytic/diagnosis ; Male ; Membrane Proteins/genetics ; Mice ; NADPH Oxidases/metabolism ; Oxidation-Reduction ; Pedigree ; Phagocytes/physiology ; Reactive Oxygen Species/metabolism ; Respiratory Burst ; T-Lymphocytes/immunology
    Chemical Substances CYBC1 protein, human ; Eros protein, mouse ; Membrane Proteins ; Reactive Oxygen Species ; NADPH Oxidases (EC 1.6.3.-)
    Language English
    Publishing date 2018-10-09
    Publishing country United States
    Document type Case Reports ; Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 121011-7
    ISSN 1097-6825 ; 1085-8725 ; 0091-6749
    ISSN (online) 1097-6825 ; 1085-8725
    ISSN 0091-6749
    DOI 10.1016/j.jaci.2018.09.019
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  6. Article ; Online: Defining a new immune deficiency syndrome: MAN2B2-CDG.

    Verheijen, Jan / Wong, Sunnie Y / Rowe, Jared H / Raymond, Kimiyo / Stoddard, Jennifer / Delmonte, Ottavia M / Bosticardo, Marita / Dobbs, Kerry / Niemela, Julie / Calzoni, Enrica / Pai, Sung-Yun / Choi, Uimook / Yamazaki, Yasuhiro / Comeau, Anne Marie / Janssen, Erin / Henderson, Lauren / Hazen, Melissa / Berry, Gerard / Rosenzweig, Sergio D /
    Aldhekri, Hasan Hamdan / He, Miao / Notarangelo, Luigi D / Morava, Eva

    The Journal of allergy and clinical immunology

    2019  Volume 145, Issue 3, Page(s) 1008–1011

    MeSH term(s) Child ; Female ; Glycosylation ; Humans ; Immunologic Deficiency Syndromes/genetics ; Mannosidase Deficiency Diseases/genetics ; alpha-Mannosidase/genetics
    Chemical Substances alpha-Mannosidase (EC 3.2.1.24)
    Language English
    Publishing date 2019-11-24
    Publishing country United States
    Document type Case Reports ; Letter ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural
    ZDB-ID 121011-7
    ISSN 1097-6825 ; 1085-8725 ; 0091-6749
    ISSN (online) 1097-6825 ; 1085-8725
    ISSN 0091-6749
    DOI 10.1016/j.jaci.2019.11.016
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  7. Article ; Online: A novel mutation in the POLE2 gene causing combined immunodeficiency.

    Frugoni, Francesco / Dobbs, Kerry / Felgentreff, Kerstin / Aldhekri, Hasan / Al Saud, Bandar K / Arnaout, Rand / Ali, Afshan Ashraf / Abhyankar, Avinash / Alroqi, Fayhan / Giliani, Silvia / Ojeda, Mayra Martinez / Tsitsikov, Erdyni / Pai, Sung-Yun / Casanova, Jean Laurent / Notarangelo, Luigi D / Manis, John P

    The Journal of allergy and clinical immunology

    2016  Volume 137, Issue 2, Page(s) 635–638.e1

    MeSH term(s) Child, Preschool ; DNA Mutational Analysis ; DNA Polymerase II/genetics ; Fatal Outcome ; Humans ; Lymphocytes/immunology ; Lymphocytes/metabolism ; Male ; Mutation ; Severe Combined Immunodeficiency/diagnosis ; Severe Combined Immunodeficiency/genetics ; Severe Combined Immunodeficiency/immunology
    Chemical Substances DNA Polymerase II (EC 2.7.7.-)
    Language English
    Publishing date 2016-02
    Publishing country United States
    Document type Case Reports ; Letter ; Research Support, N.I.H., Extramural
    ZDB-ID 121011-7
    ISSN 1097-6825 ; 1085-8725 ; 0091-6749
    ISSN (online) 1097-6825 ; 1085-8725
    ISSN 0091-6749
    DOI 10.1016/j.jaci.2015.06.049
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  8. Article ; Online: Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity.

    Massaad, Michel J / Zhou, Jia / Tsuchimoto, Daisuke / Chou, Janet / Jabara, Haifa / Janssen, Erin / Glauzy, Salomé / Olson, Brennan G / Morbach, Henner / Ohsumi, Toshiro K / Schmitz, Klaus / Kyriacos, Markianos / Kane, Jennifer / Torisu, Kumiko / Nakabeppu, Yusaku / Notarangelo, Luigi D / Chouery, Eliane / Megarbane, Andre / Kang, Peter B /
    Al-Idrissi, Eman / Aldhekri, Hasan / Meffre, Eric / Mizui, Masayuki / Tsokos, George C / Manis, John P / Al-Herz, Waleed / Wallace, Susan S / Geha, Raif S

    The Journal of clinical investigation

    2016  Volume 126, Issue 11, Page(s) 4219–4236

    Abstract: Alterations in the apoptosis of immune cells have been associated with autoimmunity. Here, we have identified a homozygous missense mutation in the gene encoding the base excision repair enzyme Nei endonuclease VIII-like 3 (NEIL3) that abolished ... ...

    Abstract Alterations in the apoptosis of immune cells have been associated with autoimmunity. Here, we have identified a homozygous missense mutation in the gene encoding the base excision repair enzyme Nei endonuclease VIII-like 3 (NEIL3) that abolished enzymatic activity in 3 siblings from a consanguineous family. The NEIL3 mutation was associated with fatal recurrent infections, severe autoimmunity, hypogammaglobulinemia, and impaired B cell function in these individuals. The same homozygous NEIL3 mutation was also identified in an asymptomatic individual who exhibited elevated levels of serum autoantibodies and defective peripheral B cell tolerance, but normal B cell function. Further analysis of the patients revealed an absence of LPS-responsive beige-like anchor (LRBA) protein expression, a known cause of immunodeficiency. We next examined the contribution of NEIL3 to the maintenance of self-tolerance in Neil3-/- mice. Although Neil3-/- mice displayed normal B cell function, they exhibited elevated serum levels of autoantibodies and developed nephritis following treatment with poly(I:C) to mimic microbial stimulation. In Neil3-/- mice, splenic T and B cells as well as germinal center B cells from Peyer's patches showed marked increases in apoptosis and cell death, indicating the potential release of self-antigens that favor autoimmunity. These findings demonstrate that deficiency in NEIL3 is associated with increased lymphocyte apoptosis, autoantibodies, and predisposition to autoimmunity.
    MeSH term(s) Adaptor Proteins, Signal Transducing/genetics ; Adaptor Proteins, Signal Transducing/immunology ; Animals ; Apoptosis/drug effects ; Apoptosis/genetics ; Apoptosis/immunology ; Autoantibodies/immunology ; Autoimmune Diseases/genetics ; Autoimmune Diseases/immunology ; Autoimmune Diseases/pathology ; B-Lymphocytes/immunology ; B-Lymphocytes/pathology ; Endodeoxyribonucleases/deficiency ; Endodeoxyribonucleases/immunology ; Female ; Genetic Predisposition to Disease ; HeLa Cells ; Humans ; Male ; Mice ; Mice, Knockout ; N-Glycosyl Hydrolases/deficiency ; N-Glycosyl Hydrolases/immunology ; Poly I-C/pharmacology ; T-Lymphocytes/immunology ; T-Lymphocytes/pathology
    Chemical Substances Adaptor Proteins, Signal Transducing ; Autoantibodies ; LRBA protein, human (EC 2.7.10.-) ; Lrba protein, mouse (EC 2.7.10.-) ; Endodeoxyribonucleases (EC 3.1.-) ; NEIL3 protein, mouse (EC 3.1.-) ; N-Glycosyl Hydrolases (EC 3.2.2.-) ; NEIL3 protein, human (EC 3.2.2.-) ; Poly I-C (O84C90HH2L)
    Language English
    Publishing date 2016-10-17
    Publishing country United States
    Document type Journal Article
    ZDB-ID 3067-3
    ISSN 1558-8238 ; 0021-9738
    ISSN (online) 1558-8238
    ISSN 0021-9738
    DOI 10.1172/JCI85647
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  9. Article ; Online: Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

    Monies, Dorota / Abouelhoda, Mohammed / Assoum, Mirna / Moghrabi, Nabil / Rafiullah, Rafiullah / Almontashiri, Naif / Alowain, Mohammed / Alzaidan, Hamad / Alsayed, Moeen / Subhani, Shazia / Cupler, Edward / Faden, Maha / Alhashem, Amal / Qari, Alya / Chedrawi, Aziza / Aldhalaan, Hisham / Kurdi, Wesam / Khan, Sameena / Rahbeeni, Zuhair /
    Alotaibi, Maha / Goljan, Ewa / Elbardisy, Hadeel / ElKalioby, Mohamed / Shah, Zeeshan / Alruwaili, Hibah / Jaafar, Amal / Albar, Ranad / Akilan, Asma / Tayeb, Hamsa / Tahir, Asma / Fawzy, Mohammed / Nasr, Mohammed / Makki, Shaza / Alfaifi, Abdullah / Akleh, Hanna / Yamani, Suad / Bubshait, Dalal / Mahnashi, Mohammed / Basha, Talal / Alsagheir, Afaf / Khaled, Musad Abu / Alsaleem, Khalid / Almugbel, Maisoon / Badawi, Manal / Bashiri, Fahad / Bohlega, Saeed / Sulaiman, Raashida / Tous, Ehab / Ahmed, Syed / Algoufi, Talal / Al-Mousa, Hamoud / Alaki, Emadia / Alhumaidi, Susan / Alghamdi, Hadeel / Alghamdi, Malak / Sahly, Ahmed / Nahrir, Shapar / Al-Ahmari, Ali / Alkuraya, Hisham / Almehaidib, Ali / Abanemai, Mohammed / Alsohaibaini, Fahad / Alsaud, Bandar / Arnaout, Rand / Abdel-Salam, Ghada M H / Aldhekri, Hasan / AlKhater, Suzan / Alqadi, Khalid / Alsabban, Essam / Alshareef, Turki / Awartani, Khalid / Banjar, Hanaa / Alsahan, Nada / Abosoudah, Ibraheem / Alashwal, Abdullah / Aldekhail, Wajeeh / Alhajjar, Sami / Al-Mayouf, Sulaiman / Alsemari, Abdulaziz / Alshuaibi, Walaa / Altala, Saeed / Altalhi, Abdulhadi / Baz, Salah / Hamad, Muddathir / Abalkhail, Tariq / Alenazi, Badi / Alkaff, Alya / Almohareb, Fahad / Al Mutairi, Fuad / Alsaleh, Mona / Alsonbul, Abdullah / Alzelaye, Somaya / Bahzad, Shakir / Manee, Abdulaziz Bin / Jarrad, Ola / Meriki, Neama / Albeirouti, Bassem / Alqasmi, Amal / AlBalwi, Mohammed / Makhseed, Nawal / Hassan, Saeed / Salih, Isam / Salih, Mustafa A / Shaheen, Marwan / Sermin, Saadeh / Shahrukh, Shamsad / Hashmi, Shahrukh / Shawli, Ayman / Tajuddin, Ameen / Tamim, Abdullah / Alnahari, Ahmed / Ghemlas, Ibrahim / Hussein, Maged / Wali, Sami / Murad, Hatem / Meyer, Brian F / Alkuraya, Fowzan S

    American journal of human genetics

    2019  Volume 105, Issue 4, Page(s) 879

    Language English
    Publishing date 2019-10-04
    Publishing country United States
    Document type Published Erratum
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1016/j.ajhg.2019.09.019
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  10. Article ; Online: Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

    Monies, Dorota / Abouelhoda, Mohammed / Assoum, Mirna / Moghrabi, Nabil / Rafiullah, Rafiullah / Almontashiri, Naif / Alowain, Mohammed / Alzaidan, Hamad / Alsayed, Moeen / Subhani, Shazia / Cupler, Edward / Faden, Maha / Alhashem, Amal / Qari, Alya / Chedrawi, Aziza / Aldhalaan, Hisham / Kurdi, Wesam / Khan, Sameena / Rahbeeni, Zuhair /
    Alotaibi, Maha / Goljan, Ewa / Elbardisy, Hadeel / ElKalioby, Mohamed / Shah, Zeeshan / Alruwaili, Hibah / Jaafar, Amal / Albar, Ranad / Akilan, Asma / Tayeb, Hamsa / Tahir, Asma / Fawzy, Mohammed / Nasr, Mohammed / Makki, Shaza / Alfaifi, Abdullah / Akleh, Hanna / Yamani, Suad / Bubshait, Dalal / Mahnashi, Mohammed / Basha, Talal / Alsagheir, Afaf / Abu Khaled, Musad / Alsaleem, Khalid / Almugbel, Maisoon / Badawi, Manal / Bashiri, Fahad / Bohlega, Saeed / Sulaiman, Raashida / Tous, Ehab / Ahmed, Syed / Algoufi, Talal / Al-Mousa, Hamoud / Alaki, Emadia / Alhumaidi, Susan / Alghamdi, Hadeel / Alghamdi, Malak / Sahly, Ahmed / Nahrir, Shapar / Al-Ahmari, Ali / Alkuraya, Hisham / Almehaidib, Ali / Abanemai, Mohammed / Alsohaibaini, Fahad / Alsaud, Bandar / Arnaout, Rand / Abdel-Salam, Ghada M H / Aldhekri, Hasan / AlKhater, Suzan / Alqadi, Khalid / Alsabban, Essam / Alshareef, Turki / Awartani, Khalid / Banjar, Hanaa / Alsahan, Nada / Abosoudah, Ibraheem / Alashwal, Abdullah / Aldekhail, Wajeeh / Alhajjar, Sami / Al-Mayouf, Sulaiman / Alsemari, Abdulaziz / Alshuaibi, Walaa / Altala, Saeed / Altalhi, Abdulhadi / Baz, Salah / Hamad, Muddathir / Abalkhail, Tariq / Alenazi, Badi / Alkaff, Alya / Almohareb, Fahad / Al Mutairi, Fuad / Alsaleh, Mona / Alsonbul, Abdullah / Alzelaye, Somaya / Bahzad, Shakir / Manee, Abdulaziz Bin / Jarrad, Ola / Meriki, Neama / Albeirouti, Bassem / Alqasmi, Amal / AlBalwi, Mohammed / Makhseed, Nawal / Hassan, Saeed / Salih, Isam / Salih, Mustafa A / Shaheen, Marwan / Sermin, Saadeh / Shahrukh, Shamsad / Hashmi, Shahrukh / Shawli, Ayman / Tajuddin, Ameen / Tamim, Abdullah / Alnahari, Ahmed / Ghemlas, Ibrahim / Hussein, Maged / Wali, Sami / Murad, Hatem / Meyer, Brian F / Alkuraya, Fowzan S

    American journal of human genetics

    2019  Volume 104, Issue 6, Page(s) 1182–1201

    Abstract: We report the results of clinical exome sequencing (CES) on >2,200 previously unpublished Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed us to make several key observations. We highlight 155 genes that we ... ...

    Abstract We report the results of clinical exome sequencing (CES) on >2,200 previously unpublished Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed us to make several key observations. We highlight 155 genes that we propose to be recessive, disease-related candidates. We report additional mutational events in 64 previously reported candidates (40 recessive), and these events support their candidacy. We report recessive forms of genes that were previously associated only with dominant disorders and that have phenotypes ranging from consistent with to conspicuously distinct from the known dominant phenotypes. We also report homozygous loss-of-function events that can inform the genetics of complex diseases. We were also able to deduce the likely causal variant in most couples who presented after the loss of one or more children, but we lack samples from those children. Although a similar pattern of mostly recessive causes was observed in the prenatal setting, the higher proportion of loss-of-function events in these cases was notable. The allelic series presented by the wealth of recessive variants greatly expanded the phenotypic expression of the respective genes. We also make important observations about dominant disorders; these observations include the pattern of de novo variants, the identification of 74 candidate dominant, disease-related genes, and the potential confirmation of 21 previously reported candidates. Finally, we describe the influence of a predominantly autosomal-recessive landscape on the clinical utility of rapid sequencing (Flash Exome). Our cohort's genotypic and phenotypic data represent a unique resource that can contribute to improved variant interpretation through data sharing.
    MeSH term(s) Child ; Cohort Studies ; Consanguinity ; Female ; Genes, Recessive ; Genetic Diseases, X-Linked/epidemiology ; Genetic Diseases, X-Linked/genetics ; Genetic Predisposition to Disease ; Homozygote ; Humans ; Male ; Mutation ; Phenotype ; Pregnancy ; Saudi Arabia/epidemiology ; Whole Exome Sequencing/methods
    Language English
    Publishing date 2019-05-23
    Publishing country United States
    Document type Journal Article
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1016/j.ajhg.2019.04.011
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