In:
Frontiers in Molecular Neuroscience, Frontiers Media SA, Vol. 15 ( 2022-6-17)
Abstract:
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 have not been associated with any human disorder. This is the first report that associates SPTBN5 gene variants (ENSG00000137877: c.266A & gt;C; p.His89Pro, c.9784G & gt;A; p.Glu3262Lys, c.933C & gt;G; p.Tyr311Ter, and c.8809A & gt;T; p.Asn2937Tyr) causing neurodevelopmental phenotypes in four different families. The SPTBN5 -associated clinical traits in our patients include intellectual disability (mild to severe), aggressive tendencies, accompanied by variable features such as craniofacial and physical dysmorphisms, autistic behavior, and gastroesophageal reflux. We also provide a review of the existing literature related to other spectrin genes, which highlights clinical features partially overlapping with SPTBN5 .
Type of Medium:
Online Resource
ISSN:
1662-5099
DOI:
10.3389/fnmol.2022.877258
Language:
Unknown
Publisher:
Frontiers Media SA
Publication Date:
2022
detail.hit.zdb_id:
2452967-9
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