Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

Elisa Cali; Mohnish Suri; Marcello Scala; Matteo P. Ferla; Shahryar Alavi; Eissa Ali Faqeih; Emilia K. Bijlsma; Kristen M. Wigby; Diana Baralle; Mohammad Y.V. Mehrjardi; Jennifer Schwab; Konrad Platzer; Katharina Steindl; Mais Hashem; Marilyn Jones; Dmitriy M. Niyazov; Jennifer Jacober; Rebecca Okashah Littlejohn; Denisa Weis; Neda Zadeh; Lance Rodan; Alice Goldenberg; François Lecoquierre; Marina Dutra-Clarke; Gabriella Horvath; Dana Young; Naama Orenstein; Shahad Bawazeer; Anneke T. Vulto-van Silfhout; Yvan Herenger; Mohammadreza Dehghani; Seyed Mohammad Seyedhassani; Amir Bahreini; Mahya E. Nasab; A. Gulhan Ercan-Sencicek; Zahra Firoozfar; Mojtaba Movahedinia; Stephanie Efthymiou; Pasquale Striano; Ehsan Ghayoor Karimiani; Vincenzo Salpietro; Jenny C. Taylor; Melody Redman; Alexander P.A. Stegmann; Andreas Laner; Ghada Abdel-Salam; Megan Li; Mario Bengala; Amelie Johanna Müller; Maria C. Digilio; Anita Rauch; Murat Gunel; Hannah Titheradge; Daniela N. Schweitzer; Alison Kraus; Irene Valenzuela; Scott D. McLean; Chanika Phornphutkul; Mustafa Salih; Amber Begtrup; Rhonda E. Schnur; Erin Torti; Tobias B. Haack; Carlos E. Prada; Fowzan S. Alkuraya; Henry Houlden; Reza Maroofian

doi:10.1016/j.gim.2022.09.016

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Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

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Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

Elisa Cali, Mohnish Suri, Marcello Scala, Matteo P. Ferla, Shahryar Alavi, Eissa Ali Faqeih, Emilia K. Bijlsma, Kristen M. Wigby, Diana Baralle, Mohammad Y.V. Mehrjardi, …

Genetics in medicine, Vol.25(1), pp.135-142

01/2023

DOI: https://doi.org/10.1016/j.gim.2022.09.016

PMID: 36399134

Abstract

Chromatinopathy

Mendelian disorders of the epigenetic machinery

PRMT7

Syndromic neurodevelopmental disorder

Syndromic obesity

Protein arginine methyltransferase 7 (PRMT7) is a member of a family of enzymes that catalyzes the methylation of arginine residues on several protein substrates. Biallelic pathogenic PRMT7 variants have previously been associated with a syndromic neurodevelopmental disorder characterized by short stature, brachydactyly, intellectual developmental disability, and seizures. To our knowledge, no comprehensive study describes the detailed clinical characteristics of this syndrome. Thus, we aim to delineate the phenotypic spectrum of PRMT7-related disorder. We assembled a cohort of 51 affected individuals from 39 different families, gathering clinical information from 36 newly described affected individuals and reviewing data of 15 individuals from the literature. The main clinical characteristics of the PRMT7-related syndrome are short stature, mild to severe developmental delay/intellectual disability, hypotonia, brachydactyly, and distinct facial morphology, including bifrontal narrowing, prominent supraorbital ridges, sparse eyebrows, short nose with full/broad nasal tip, thin upper lip, full and everted lower lip, and a prominent or squared-off jaw. Additional variable findings include seizures, obesity, nonspecific magnetic resonance imaging abnormalities, eye abnormalities (i.e., strabismus or nystagmus), and hearing loss. This study further delineates and expands the molecular, phenotypic spectrum and natural history of PRMT7-related syndrome characterized by a neurodevelopmental disorder with skeletal, growth, and endocrine abnormalities. [Display omitted]

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Title: Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities
Creators - without role: Elisa Cali - University College London
Mohnish Suri - Nottingham University Hospitals NHS Trust
Marcello Scala - Istituto Giannina Gaslini
Matteo P. Ferla - Wellcome Centre for Human Genetics
Shahryar Alavi - University of Isfahan
Eissa Ali Faqeih - Section of Medical Genetics, Children’s Specialist Hospital, King Fahad Medical, City, Riyadh, Saudi Arabia
Emilia K. Bijlsma - Leiden University Medical Center
Kristen M. Wigby - Rady Children's Hospital-San Diego
Diana Baralle - Princess Anne Hospital
Mohammad Y.V. Mehrjardi - Shahid Sadoughi University of Medical Sciences and Health Services
Jennifer Schwab - Hasbro Children's Hospital
Konrad Platzer - Leipzig University
Katharina Steindl - University of Zurich
Mais Hashem - Genomics Medicine
Marilyn Jones - Rady Children's Hospital-San Diego
Dmitriy M. Niyazov - Ochsner Health System
Jennifer Jacober - Ochsner Health System
Rebecca Okashah Littlejohn - Baylor College of Medicine
Denisa Weis - Johannes Kepler University of Linz
Neda Zadeh - Children's Hospital of Orange County
Lance Rodan - Boston Children's Hospital
Alice Goldenberg - Normandie Université
François Lecoquierre - Normandie Université
Marina Dutra-Clarke - University of California, Los Angeles
Gabriella Horvath - British Columbia Children's Hospital
Dana Young - Vancouver General Hospital
Naama Orenstein - Schneider Children's Medical Center
Shahad Bawazeer - Section of Medical Genetics, Children’s Specialist Hospital, King Fahad Medical, City, Riyadh, Saudi Arabia
Anneke T. Vulto-van Silfhout - Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
Yvan Herenger - GeneTiCA
Mohammadreza Dehghani - Shahid Sadoughi University of Medical Sciences and Health Services
Seyed Mohammad Seyedhassani - Dr. Seyedhassani Medical Genetic Center, Yazd, Iran
Amir Bahreini - University of Isfahan
Mahya E. Nasab - Dr. Seyedhassani Medical Genetic Center, Yazd, Iran
A. Gulhan Ercan-Sencicek - Yale University
Zahra Firoozfar - University of Isfahan
Mojtaba Movahedinia - Shahid Sadoughi University of Medical Sciences and Health Services
Stephanie Efthymiou - National Hospital for Neurology and Neurosurgery
Pasquale Striano - University of Genoa
Ehsan Ghayoor Karimiani - St George's, University of London
Vincenzo Salpietro - Istituto Giannina Gaslini
Jenny C. Taylor - Wellcome Centre for Human Genetics
Melody Redman - Chapel Allerton Hospital
Alexander P.A. Stegmann - Maastricht University
Andreas Laner - Medical Genetics Center
Ghada Abdel-Salam - Human Genetics and Genome Research Division, Department of Clinical Genetics, National Research Centre, Cairo, Egypt
Megan Li - Invitae
Mario Bengala - Laboratory of Medical Genetics, Tor Vergata Hospital, Rome, Italy
Amelie Johanna Müller - University of Tübingen
Maria C. Digilio - Bambino Gesù Children's Hospital
Anita Rauch - University of Zurich
Murat Gunel - Yale University
Hannah Titheradge - Birmingham Women’s and Children’s NHS Foundation Trust
Daniela N. Schweitzer - University of California, Los Angeles
Alison Kraus - Chapel Allerton Hospital
Irene Valenzuela - Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Barcelona, Spain
Scott D. McLean - Baylor College of Medicine
Chanika Phornphutkul - Ochsner Health System
Mustafa Salih - AlMughtaribeen University
Amber Begtrup - GeneDx, Gaithersburg, MD
Rhonda E. Schnur - GeneDx, Gaithersburg, MD
Erin Torti - GeneDx, Gaithersburg, MD
Tobias B. Haack - University of Tübingen
Carlos E. Prada - Cincinnati Children's Hospital Medical Center
Fowzan S. Alkuraya - Alfaisal University
Henry Houlden - National Hospital for Neurology and Neurosurgery
Reza Maroofian - University College London
Publication Details: Genetics in medicine, Vol.25(1), pp.135-142
Publisher: Elsevier Inc
Identifiers: 9947853008331
Academic Unit: King Saud University; King Khalid University; King Faisal University; Alfaisal University
Language: English
Resource Type: Journal article