contribu-Common polymorphisms of the CFH, LOC 387715/ARMS2 and HTRA1 genes may not influence the intra-familial variability of X-linked juvenile retinoschisis
It is unlikely that common polymorphisms of the cFH, loc 387715/arMS2 and HTRA1 genes serve as disease modifiers of the XLRS disorder, but cannot completely rule out the role of the above genes in determining the phenotypic variability of the disorder.
This study expands the mutational spectrum of FBN1, establishes functional evidence for the pathogenicity of the LDLR variant, and represents the first report of a pediatric individual carrying three coexisting pathogenic variants for rare diseases.
Hang Shi, Xue-Jian Han, Shu-Kai Xing et al.· Genetics Research· 0 citations
This study expands the clinical, genetic, and molecular spectrum of EZH1-associated neurodevelopmental disorders by demonstrating that reduced EZH1 expression is consistent with a loss-of-function disease mechanism.
Mohamed Baity, Khalid K Alharbi, Eman Alobeid et al.· International Journal of Mol...· 0 citations
A male infant with a severe FINCA-like phenotype is reported, including early-onset hemolytic anemia, pulmonary involvement, neurodevelopmental impairment, growth failure, recurrent infections, and fatal progression at 8.5 months.
A. Rozhkova, Anton A. Esibov, Aleksandra Borkovskaia et al.· International Journal of Mol...· 0 citations
The co-occurrence of variants in AKAP4 and RNF220 may suggest an oligogenic etiology of NOA and contribute to the phenotypic variability associated with AKAP4 variants.
Razieh Ebrahimi Askari, A. Malcher, Fateme Sefid et al.· International Journal of Mol...· 0 citations
This family provides a detailed clinical and genetic description of 16p11.2 microduplication carriers with prominent gastrointestinal motility and neuromuscular manifestations, thereby enriching the clinical characterization of this recurrent CNV and supporting substantial intrafamilial phenotypic heterogeneity.
The need to screen WES/WGS data in patients with XLH not only for PHEX variants, but also for variants in other phosphate-regulating genes before initiating burosumab therapy is underscored, particularly when biochemical parameters are inconsistent with "classical" XLH.
M. Sharova, Евгения Сергеевна Климова, A. Filatova et al.· Pediatric nephrology (Berlin...· 0 citations
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