Publications by authors named "Alison S May"
Article Synopsis
- SPTBN1 gene encodes βII-spectrin, crucial for forming networks at plasma membranes, and its deficiency in mice leads to significant neurodevelopmental issues.
- Heterozygous variants of SPTBN1 were identified in 29 individuals exhibiting a range of developmental challenges, including intellectual disabilities, language delays, and autistic features.
- These variants weaken βII-spectrin stability and disrupt cellular organization, establishing SPTBN1 as a key contributor to certain neurodevelopmental syndromes.
The DNA damage-binding protein 1 (DDB1) is part of the CUL4-DDB1 ubiquitin E3 ligase complex (CRL4), which is essential for DNA repair, chromatin remodeling, DNA replication, and signal transduction. Loss-of-function variants in genes encoding the complex components CUL4 and PHIP have been reported to cause syndromic intellectual disability with hypotonia and obesity, but no phenotype has been reported in association with DDB1 variants. Here, we report eight unrelated individuals, identified through Matchmaker Exchange, with de novo monoallelic variants in DDB1, including one recurrent variant in four individuals.
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