Systematic genotype-phenotype mapping and transcriptomic analyses highlight SEMA6A as a candidate for neuronal migration defects in 5q22-q23 deletions.
Aug 2026· Journal of Human Genetics· 0 citations· 46 references
Medicine
TL;DR
Re-analysis of human fetal cortex single-cell RNA sequencing data demonstrated that SEMA6A and FLNA are significantly co-expressed in apical radial glia and newborn excitatory neurons, suggesting that SEMA6A is a candidate contributor to neuronal migration defects in 5q22.3-q23.3 deletions.
Current knowledge on the genotypic and phenotypic spectra of SET-NDD is expanded, and pinpoints a smaller 9q34.11 critical region excluding upstream NDD-associated genes, STXBP1 and SPTAN1, implicating SET as a significant NDD-associated gene.
Angelo Condell, Elaine Zhang, Tim Sikora et al.· Clinical Genetics· 0 citations
The findings establish a causal link between MSX2 upstream duplications and CCD‐like phenotypes, emphasizing the role of epigenetic mechanisms and TAD structures in regulating skeletal development.
Mamiko Yamada, M. Cleghorn, Prabhakara Krishnamurthy et al.· Human Mutation· 0 citations
Findings further support the role of haploinsufficient genes within the distal 1q43q44 region, particularly AKT3, HNRNPU, and ZBTB18, to the core neurodevelopmental phenotype and highlight the value of high‐resolution genomic analysis for patient characterization.
Ma. Guadalupe Domínguez-Quezada, H. Rivera, L. E. Figuera et al.· Journal of clinical laborato...· 0 citations
The findings highlight the importance of detailed phenotyping, breakpoint analysis, and segregation studies in interpreting CNVs, particularly VUS and rare intragenic disruptions.
MEST is identified as a plausible candidate gene for SRS and provides a rationale for further functional studies, including in silico predictions and clinical correlation.
Xiao-Cha Xu, R. Pan, Shuai Chen et al.· Genes· 0 citations
The findings suggest that PPP1R12A-related disorders may exhibit a broader phenotypic variability than previously recognized and it is proposed that HL and inner ear malformations may represent novel features associated with this clinical spectrum.
Giulia Pianigiani, Lara Emily Rosso, A. Morgan et al.· Genes· 0 citations
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