De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.

Adaptor Protein Complex 1 / genetics Alleles Animals DNA Mutational Analysis Developmental Disabilities / genetics Epilepsy / genetics Female HEK293 Cells Humans Intellectual Disability / genetics Male Neurodevelopmental Disorders / genetics Pedigree Rats Zebrafish / genetics
AP-1 complex AP1G1 Pakistani families developmental delay epilepsy exome sequencing genetic heterogeneity intellectual disabilities neurodevelopment disorder

Journal

American journal of human genetics
ISSN: 1537-6605
Titre abrégé: Am J Hum Genet
Pays: United States
ID NLM: 0370475

Informations de publication

Date de publication:
01 07 2021
Historique:
received: 07 10 2020
accepted: 14 05 2021
pubmed: 9 6 2021
medline: 1 9 2021
entrez: 8 6 2021
Statut: ppublish

Résumé

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

Identifiants

DOI: 10.1016/j.ajhg.2021.05.007 PMID: 34102099 PMC: PMC8322935
pubmed: 34102099
pii: S0002-9297(21)00191-9
doi: 10.1016/j.ajhg.2021.05.007
pmc: PMC8322935
pii:
doi:

Substances chimiques

Adaptor Protein Complex 1 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

1330-1341

Subventions

Organisme : NINDS NIH HHS
ID : R01 NS107428
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001863
Pays : United States

Informations de copyright

Published by Elsevier Inc.

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Auteurs

Muhammad A Usmani (MA)

Department 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 Ahmed (ZM)

Department 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 Magini (P)

U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Via Albertoni 15, Bologna, Italy.

Victor Murcia Pienkowski (VM)

Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.

Kristen J Rasmussen (KJ)

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.

Rebecca Hernan (R)

Department of Pediatrics, Columbia University, New York, NY 10032, USA.

Faiza Rasheed (F)

Centre of Excellence in Molecular Biology, University of the Punjab, Lahore 54500, Pakistan.

Mureed Hussain (M)

Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.

Mohsin Shahzad (M)

Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad 44000, Pakistan.

Brendan C Lanpher (BC)

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.

Zhiyv Niu (Z)

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.

Foong-Yen Lim (FY)

Division of Pediatric Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.

Tommaso Pippucci (T)

U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Via Albertoni 15, Bologna, Italy.

Rafal Ploski (R)

Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.

Verena Kraus (V)

Department of Pediatrics, Klinik für Kinder- und Jugendmedizin, München Klinik Schwabing und Harlaching, Klinikum Rechts der Isar der Technischen Universität Munich, Munich, Germany.

Karolina Matuszewska (K)

Department of Medical Genetics, University of Medical Sciences, 60-806 Poznan, Poland; Centers for Medical Genetics GENESIS, Grudzieniec, 60-406 Poznan, Poland.

Flavia Palombo (F)

U.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 Kianmahd (J)

Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.

Julian A Martinez-Agosto (JA)

Department 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 Lee (H)

Department 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 Colao (E)

Medical Genetics Unit, Mater Domini University Hospital, 88100 Catanzaro, Italy.

M Mahdi Motazacker (MM)

Amsterdam Laboratory of Genome Diagnostics, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.

Karlla W Brigatti (KW)

Clinic for Special Children, Strasburg, PA 17579, USA.

Erik G Puffenberger (EG)

Clinic for Special Children, Strasburg, PA 17579, USA.

S Amer Riazuddin (SA)

The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

Claudia Gonzaga-Jauregui (C)

Regeneron Genetics Center, Tarrytown, NY 10591, USA.

Wendy K Chung (WK)

Department of Pediatrics, Columbia University, New York, NY 10032, USA; Department of Medicine, Columbia University, New York, NY 10032, USA.

Matias Wagner (M)

Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.

Matthew J Schultz (MJ)

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.

Marco Seri (M)

U.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 Kievit (AJA)

Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, the Netherlands.

Nicola Perrotti (N)

Department of Health Sciences, University of Catanzaro Magna Graecia, 88100 Catanzaro, Italy.

J S Klein Wassink-Ruiter (JSK)

Department of Genetics, University of Groningen, University Medical Center Groningen, P.O. box 30.001, 9700 RB Groningen, the Netherlands.

Hans van Bokhoven (H)

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. box 9101, 6500 HB Nijmegen, the Netherlands.

Sheikh Riazuddin (S)

Department 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 Riazuddin (S)

Department 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.

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Classifications MeSH

questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines du transport vésiculaire › Protéines adaptatrices du transport vésiculaire › Complexe protéique adaptateur 1 › De novo and bi-allelic variants in AP1G1 cause...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Allèles › De novo and bi-allelic variants in AP1G1 cause...
questionsmedicales.fr › Eucaryotes › Animaux › De novo and bi-allelic variants in AP1G1 cause...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Analyse de mutations d'ADN › De novo and bi-allelic variants in AP1G1 cause...
questionsmedicales.fr › Troubles mentaux › Troubles du développement neurologique › Incapacités de développement › De novo and bi-allelic variants in AP1G1 cause...
questionsmedicales.fr › Maladies du système nerveux › Maladies du système nerveux central › Encéphalopathies › Épilepsie › De novo and bi-allelic variants in AP1G1 cause...
questionsmedicales.fr › Cellules › Cellules épithéliales › Cellules HEK293 › De novo and bi-allelic variants in AP1G1 cause...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › De novo and bi-allelic variants in AP1G1 cause...
questionsmedicales.fr › Troubles mentaux › Troubles du développement neurologique › Déficience intellectuelle › De novo and bi-allelic variants in AP1G1 cause...
questionsmedicales.fr › Troubles mentaux › Troubles du développement neurologique › De novo and bi-allelic variants in AP1G1 cause...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Pedigree › De novo and bi-allelic variants in AP1G1 cause...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Rats › De novo and bi-allelic variants in AP1G1 cause...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Poissons › Cypriniformes › Cyprinidae › Danio zébré › De novo and bi-allelic variants in AP1G1 cause...