Expanding the molecular spectrum of gene fusions in endometrial stromal sarcoma: Novel subunits of the chromatin remodeling complexes PRC2 and NuA4/TIP60 as alternative fusion partners
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.1002/gcc.23109
Abstract: Endometrial stromal sarcomas (ESS) are morphologically and molecularly heterogeneous. We report novel gene fusions (EPC1::EED, EPC1::EZH2, ING3::PHF1) identified by targeted RNA sequencing in five cases. The ING3::PHF1‐fusion positive ESS presented in a 58‐year‐old female as… read more here.
Keywords: fusion; molecular spectrum; endometrial stromal; gene fusions ... See more keywords
Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.
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DOI: 10.1093/hmg/ddac071
Abstract: We previously molecularly and clinically characterized Mazzanti syndrome, a RASopathy related to Noonan syndrome that is mostly caused by a single recurrent missense variant (c.4A > G, p.Ser2Gly) in SHOC2, which encodes a leucine-rich repeat (LRR)-containing protein… read more here.
Keywords: molecular spectrum; spectrum pathogenic; shoc2 variants; mazzanti syndrome ... See more keywords
Clinical and molecular spectrum associated with Polymerase-γ related disorders
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DOI: 10.1177/08830738211067065
Abstract: Background POLG pathogenic variants are the commonest single-gene cause of inherited mitochondrial disease. However, the data on clinicogenetic associations in POLG-related disorders are sparse. This study maps the clinicogenetic spectrum of POLG-related disorders in the… read more here.
Keywords: pathogenic variants; polymerase; molecular spectrum; spectrum ... See more keywords
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
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DOI: 10.1186/s13023-021-01744-1
Abstract: Background An identical homozygous missense variant in EIF3F , identified through a large-scale genome-wide sequencing approach, was reported as causative in nine individuals with a neurodevelopmental disorder, characterized by variable intellectual disability, epilepsy, behavioral problems… read more here.
Keywords: molecular spectrum; eif3f related; neurodevelopmental disorder; spectrum ... See more keywords
APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia
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DOI: 10.3390/ijms23105792
Abstract: Primary hypercholesterolemia is characterized by elevated LDL-cholesterol (LDL-C) levels isolated in autosomal dominant hypercholesterolemia (ADH) or associated with elevated triglyceride levels in familial combined hyperlipidemia (FCHL). Rare APOE variants are known in ADH and FCHL.… read more here.
Keywords: spectrum french; molecular spectrum; adh fchl; apoe molecular ... See more keywords
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome
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DOI: 10.3390/ijms23115912
Abstract: KBG syndrome (KBGS) is a neurodevelopmental disorder caused by the Ankyrin Repeat Domain 11 (ANKRD11) haploinsufficiency. Here, we report the molecular investigations performed on a cohort of 33 individuals with KBGS clinical suspicion. By using… read more here.
Keywords: kbg syndrome; molecular spectrum; expanding molecular; spectrum ankrd11 ... See more keywords