Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia
Abstract
Human genomics established that pathogenic variation in diverse genes can underlie a single disorder. For example, hereditary spastic paraplegia is associated with >80 genes, with frequently only few affected individuals described for each gene. Herein, we characterize a large cohort of individuals with biallelic variation in ENTPD1, a gene previously linked to spastic paraplegia 64 (Mendelian Inheritance in Man # 615683).
Document Details
- Document Type
- Pub Defense Publication
- Publication Date
- May 28, 2022
- Source ID
- 10.1002/ana.26381
Entities
People
- Adeline Vanderver
- Alexander Lossos
- Amir Bahreini
- Aren E. Marshall
- Arjan Bouman
- Asaad Ghanim Jaddoa
- Charul Gijavanekar
- Christopher M Grochowski
- Clarissa Rocca
- Claudia Ruivenkamp
- Dana Marafi
- Daniel G. Calame
- David L. Skidmore
- David Murphy
- Davut Pehlivan
- Ehsan Ghayoor Karimiani
- Elahe Zarean
- Eugenia Prus
- Francesco Nicita
- Giovanni Zifarelli
- Haowei Du
- Henry Houlden
- Homa Tajsharghi
- Isabella Herman
- James R. Lupski
- Jawid M. Fatih
- Jennifer E. Posey
- Jill V. Hunter
- Jonas A. Morales Saute
- Karina Carvalho Donis
- Kayla Muirhead
- Kristin D. Kernohan
- Kym M. Boycott
- Lisa T. Emrick
- Lorena Travaglini
- Maha S. Zaki
- Manon Suerink
- Matthew Osmond
- Michael C. Kruer
- Mohammad Mehdi Salehi
- Mohammad Reza Abbaszadegan
- Nebal W. Saadi
- Nouriya Abbas Al‐sannaa
- Peter Bauer
- Reza Ebrahimzadeh‐vesal
- Reza Maroofian
- Richard A. Gibbs
- Sarah H. Elsea
- Sergio B. Sousa
- Shahryar Alavi
- Shalini N. Jhangiani
- Sheng Chih Jin
- Simon C. Robson
- Somayeh Bakhtiari
- Susan Hosseini
- Tadahiro Mitani
- Tahsin Stefan Barakat
- Thiago Oliveira Silva
- Vardiella Meiner
- Vernon Reid Sutton
- Yakov Fellig
- Yalda Jamshidi
- Yoko A. Ito
- Yosef Kalish
- Zeynep Coban‐akdemir
Organizations
- American Brain Foundation
- Barrow Neurological Institute
- Baylor College of Medicine
- Brain & Behavior Research Foundation
- Canadian Institutes of Health Research
- Cerebral Palsy Alliance Research Foundation
- Children's Hospital of Philadelphia
- Dalhousie University
- Dubrava Clinical Hospital
- Erasmus MC
- Federal University of Rio Grande do Sul
- Genome Alberta
- Genome British Columbia
- Genome Canada
- Harvard Medical School
- Hebrew University of Jerusalem
- International Rett syndrome Foundation
- Isfahan University of Medical Sciences
- Leiden University
- Mashhad University of Medical Sciences
- Muscular Dystrophy Association
- National Council for Scientific and Technological Development
- National Human Genome Research Institute
- National Institute of Neurological Disorders and Stroke
- National Institutes of Health
- Newborn Screening Ontario
- Ontario Genomics
- St George's, University of London
- Texas Children's Hospital
- Uehara Memorial Foundation
- Unidade Local de Saúde de Coimbra
- United States Department of Defense
- University College London
- University of Arizona
- University of Baghdad
- University of Coimbra
- University of Isfahan
- University of Ottawa
- University of Pennsylvania
- University of Pittsburgh
- University of Skövde
- University of Texas Health Science Center at Houston
- Washington University in St. Louis