ArticleAmerican journal of human genetics2021
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
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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 15 papers.
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15 citing papers in PubMed, 28 citations in OpenAlex.
- Usmani-Riazuddin Syndrome: Functional Characterization of a Novel c.196G>A Variant in theInternational journal of molecular sciences · 2025Article
- Cannabidiolic Acid Rescues Deficits in Hippocampal Long-Term Potentiation in Models of Alzheimer's Disease: An Electrophysiological and Proteomic Analysis.International journal of molecular sciences · 2025Article
- Whole genome sequencing for copy number variant detection to improve diagnosis and management of rare diseases.Developmental medicine and child neurology · 2025Article
- Shared Genetic Architecture of Obstructive Sleep Apnea and Neck Pain: A Large-Scale Genome-Wide Association Study.Journal of pain research · 2025Article
- Revising pathogenesis of AP1S1-related MEDNIK syndrome: a missense variant in the AP1S1 gene as a causal genetic lesion.Journal of molecular medicine (Berlin, Germany) · 2024Article
- Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.American journal of human genetics · 2024Article
- Orchestrating vesicular and nonvesicular membrane dynamics by intrinsically disordered proteins.EMBO reports · 2023Review
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- Do PACS1 variants impeding adaptor protein binding predispose to syndromic intellectual disability?American journal of medical genetics. Part A · 2023Article
- Deficiency of AP1 ComplexInternational journal of molecular sciences · 2023Article
- A neurodevelopmental disorder associated with an activating de novo missense variant in ARF1.Human molecular genetics · 2023Article
- The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.Scientific reports · 2022Article
- Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.Scientific reports · 2022Article
- The Future of Genetic Disease Studies: Assembling an Updated Multidisciplinary Toolbox.Frontiers in cell and developmental biology · 2022Article
- Role of adaptin protein complexes in intracellular trafficking and their impact on diseases.Bioengineered · 2021Article
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Authors and funding
37 authors at 20 institutions in 6 countries.
Muhammad A UsmaniDepartment of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA; Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad 44000, Pakistan.
Zubair M AhmedDepartment of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA; Department of Molecular Biology and Biochemistry, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.
Pamela MaginiU.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Via Albertoni 15, Bologna, Italy.
Victor Murcia PienkowskiDepartment of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.
Kristen J RasmussenDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
Rebecca HernanDepartment of Pediatrics, Columbia University, New York, NY 10032, USA.
Faiza RasheedCentre of Excellence in Molecular Biology, University of the Punjab, Lahore 54500, Pakistan.
Mureed HussainDepartment of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.
Mohsin ShahzadDepartment of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad 44000, Pakistan.
Brendan C LanpherDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
Zhiyv NiuDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.
Foong-Yen LimDivision of Pediatric Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Tommaso PippucciU.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Via Albertoni 15, Bologna, Italy.
Rafal PloskiDepartment of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.
Verena KrausDepartment of Pediatrics, Klinik für Kinder- und Jugendmedizin, München Klinik Schwabing und Harlaching, Klinikum Rechts der Isar der Technischen Universität Munich, Munich, Germany.
Karolina MatuszewskaDepartment of Medical Genetics, University of Medical Sciences, 60-806 Poznan, Poland; Centers for Medical Genetics GENESIS, Grudzieniec, 60-406 Poznan, Poland.
Flavia PalomboU.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Via Albertoni 15, Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139 Bologna, Italy.
Jessica KianmahdDepartment of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.
UCLA Clinical Genomics Center
Julian A Martinez-AgostoDepartment of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.
Hane LeeDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.
Emma ColaoMedical Genetics Unit, Mater Domini University Hospital, 88100 Catanzaro, Italy.
M Mahdi MotazackerAmsterdam Laboratory of Genome Diagnostics, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.
Karlla W BrigattiClinic for Special Children, Strasburg, PA 17579, USA.
Erik G PuffenbergerClinic for Special Children, Strasburg, PA 17579, USA.
S Amer RiazuddinThe Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Claudia Gonzaga-JaureguiRegeneron Genetics Center, Tarrytown, NY 10591, USA.
Wendy K ChungDepartment of Pediatrics, Columbia University, New York, NY 10032, USA; Department of Medicine, Columbia University, New York, NY 10032, USA.
Matias WagnerInstitute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.
Matthew J SchultzDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
Marco SeriU.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Via Albertoni 15, Bologna, Italy; Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, Italy.
Anneke J A KievitClinical Genetics, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, the Netherlands.
Nicola PerrottiDepartment of Health Sciences, University of Catanzaro Magna Graecia, 88100 Catanzaro, Italy.
J S Klein Wassink-RuiterDepartment of Genetics, University of Groningen, University Medical Center Groningen, P.O. box 30.001, 9700 RB Groningen, the Netherlands.
Hans van BokhovenDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. box 9101, 6500 HB Nijmegen, the Netherlands.
Sheikh RiazuddinDepartment of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad 44000, Pakistan; Jinnah Burn and Reconstructive Surgery Center, Allama Iqbal Medical College, University of Health Sciences, Lahore 54550, Pakistan.
Saima RiazuddinDepartment of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA; Department of Molecular Biology and Biochemistry, School of Medicine, University of Maryland, Baltimore, MD 21201, USA. Electronic address: sriazuddin@som.umaryland.edu.
University of California, Los Angeles · USUniversity of Maryland, Baltimore · USAzienda USL di Bologna · ITClinic for Special Children · USColumbia University · USJohns Hopkins Medicine · USMayo Clinic · USMedica (Italy) · ITMedical University of Warsaw · PLWinnMed · USAcademic Medical Center · NLAzienda Ospedaliero Universitario Mater Domini · ITCentre of Excellence in Molecular Biology · PKCincinnati Children's Hospital Medical Center · USErasmus MC · NLMagna Graecia University · ITMünchen Klinik Schwabing · DEPoznan University of Medical Sciences · PLRadboud University Medical Center · NLRegeneron (United States) · US
Funding
Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9MGenetics and Functional Studies of Autosomal Recessive Neurological DisordersR01NS107428 · NINDS · UNIVERSITY OF MARYLAND BALTIMORE · PI Saima Riazuddin · 2018 to 2026
$4.7MNCATS NIH HHS UL1 TR001863NINDS NIH HHS R01 NS107428
Abstract
Adaptor protein (AP) complexes mediate selective intracellular vesicular trafficking and polarized localization of somatodendritic proteins in neurons. Disease-causing alleles of various subunits of AP complexes have been implicated in several heritable human disorders, including intellectual disabilities (IDs). Here, we report two bi-allelic (c.737C>A [p.Pro246His] and c.1105A>G [p.Met369Val]) and eight de novo heterozygous variants (c.44G>A [p.Arg15Gln], c.103C>T [p.Arg35Trp], c.104G>A [p.Arg35Gln], c.229delC [p.Gln77Lys
Indexed as
Adaptor Protein Complex 1AllelesAnimalsDevelopmental DisabilitiesDNA Mutational AnalysisEpilepsyFemaleHEK293 CellsHumansIntellectual DisabilityMaleNeurodevelopmental DisordersPedigreeRatsZebrafishAdaptor Protein Complex 1AP-1 complexAP1G1developmental delayepilepsyexome sequencinggenetic heterogeneityintellectual disabilitiesneurodevelopment disorderPakistani families
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