A 62-year-old woman presenting with apathy, hyperorality, and language impairment, harbouring a novel heterozygous c.440 A > G CHMP2B variant of uncertain significance, causing D147G substitution is reported, raising the possibility that this variant may be relevant in the context of an FTD-like phenotype.
This study may expand the mutation and phenotypic spectrum of SETD1A-related disorders, establishing the relationship between SETD1A variants and isolated early-onset epilepsy without accompanying severe neurodevelopmental deficits, and highlighting the value of genetic testing in infants with unexplained epilepsy.
Rina Su, Lei Zhu, Lin Jiang et al.· Frontiers in Neuroscience· 0 citations
W Whole exome sequencing revealed a homozygous splice‐site variant (c.454+3A>G) in the TRAPPC4 gene, confirming the diagnosis of NEDESBA, and emphasizes the critical role of early molecular testing in achieving a precise diagnosis.
Anil Kumar, Ajay Kumar, Arvinder Wander et al.· International Journal of Dev...· 0 citations
The molecular and phenotypic spectrum of SLC13A3‐related ARLIAK is expanded and the importance of combining sequencing with copy number analysis for accurate diagnosis is underscored, suggesting the need for copy number analysis as part of the diagnostic protocol for suspected ARLIAK cases.
E. Uctepe, Melike Ersoy, F. N. Esen et al.· International Journal of Dev...· 0 citations
The findings support the pathogenicity of this variant and further expand the pathogenic variant spectrum of the PPP2CA gene, and the observed genotype–phenotype correlation provides valuable information for prognosis and genetic counseling.
Lei Xu, Yan-Feng Shen, Guixiang Zhang· Frontiers in Psychiatry· 0 citations
This case supports an autosomal recessive mechanism of CLDN11‐related disease, which differs from the dominant stop‐loss variants reported previously, and broaden the mutational spectrum and suggest distinct pathogenic mechanisms, with important implications for diagnosis and genetic counselling.
F. Acquaviva, S. Troisi, G. Errichiello et al.· Clinical Genetics· 0 citations
A novel homozygous missense variant in RNF216 gene c.1055T>G (p.(Phe352Cys)) in three siblings with Gordon Holmes syndrome is reported, contributing to the limited knowledge of GHS and highlighting the importance of hypogonadotropic hypogonadism treatment and close observation of neurological symptoms that may develop...
