Article
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
Annals of neurology - 1 Aug 2022
Calame Daniel G, Herman Isabella, Maroofian Reza, Marshall Aren E, Donis Karina Carvalho, Fatih Jawid M, Mitani Tadahiro, Du Haowei, Grochowski Christopher M, Sousa Sergio B, Gijavanekar Charul, Bakhtiari Somayeh, Ito Yoko A, Rocca Clarissa, Hunter Jill V, Sutton V Reid, Emrick Lisa T, Boycott Kym M, Lossos Alexander, Fellig Yakov, Prus Eugenia, Kalish Yosef, Meiner Vardiella, Suerink Manon, Ruivenkamp Claudia, Muirhead Kayla, Saadi Nebal W, Zaki Maha S, Bouman Arjan, Barakat Tahsin Stefan, Skidmore David L, Osmond Matthew, Silva Thiago Oliveira, Murphy David, Karimiani Ehsan Ghayoor, Jamshidi Yalda, Jaddoa Asaad Ghanim, Tajsharghi Homa, Jin Sheng Chih, Abbaszadegan Mohammad Reza, Ebrahimzadeh-Vesal Reza, Hosseini Susan, Alavi Shahryar, Bahreini Amir, Zarean Elahe, Salehi Mohammad Mehdi, Al-Sannaa Nouriya Abbas, Zifarelli Giovanni, Bauer Peter, Robson Simon C, Coban-Akdemir Zeynep, Travaglini Lorena, Nicita Francesco, Jhangiani Shalini N, Gibbs Richard A, Posey Jennifer E, Kruer Michael C, Kernohan Kristin D, Morales Saute Jonas A, Houlden Henry, Vanderver Adeline, Elsea Sarah H, Pehlivan Davut, Marafi Dana, Lupski James R
Abstract excerpt
OBJECTIVE: 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...
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