SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures

SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures

Whole exome sequencing has provided significant opportunities to discover novel candidate genes for intellectual disability and autism spectrum disorders. Variants in the spectrin genes SPTAN1, SPTBN1, SPTBN2, and SPTBN4 have been associated with neurological disorders; however, SPTBN5 gene-variants...

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Bibliographic Details
Main Authors: Amjad Khan, Lucia Pia Bruno, Fadhel Alomar, Muhammad Umair, Anna Maria Pinto, Abid Ali Khan, Alamzeb Khan, Saima, Alessandra Fabbiani, Kristina Zguro, Simone Furini, Maria Antonietta Mencarelli, Alessandra Renieri, Sara Resciniti, Karla A. Peña-Guerra, Francisco J. Guzmán-Vega, Stefan T. Arold, Francesca Ariani, Shahid Niaz Khan
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-06-01
Series:Frontiers in Molecular Neuroscience
Subjects:
intellectual disability (ID)
whole exome sequencing (WES)
SPTBN5
heterozygous mutation
protein modeling 3
Online Access:https://www.frontiersin.org/articles/10.3389/fnmol.2022.877258/full

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https://www.frontiersin.org/articles/10.3389/fnmol.2022.877258/full

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