Categoría: Enfermedades Raras
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Case Report: Deciphering a de novo complex chromosomal rearrangement causing premature ovarian insufficiency, short stature, and mild intellectual disability using long-read sequencing
ObjectivePremature ovarian insufficiency (POI) with short stature and mild intellectual disability can have diverse genetic etiologies. We aimed to decipher the genetic basis of this complex phenotype in a 26-year-old female with a karyotype lacking an…
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From genes to generations: genetic evaluation and counseling for infertility and pregnancy loss
IntroductionUnderstanding the genetics of reproductive disorders is key to improving diagnosis, treatment, and overall reproductive health. This study aimed to describe the characteristics, assessment, investigations, and recommendations in patients se…
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Genetic heterogeneity correlated with phenotypic variability in 6 Chinese families with Alport syndrome
BackgroundAlport syndrome (AS) is a common hereditary kidney disease, mainly characterized by hematuria, progressive renal dysfunction, sensorineural hearing loss, and ocular symptoms, which significantly impacts patients the quality of life patients’ …
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Case report: novel DNAH11 compound heterozygous variants including an exon 30–54 duplication in a child with a highly suggestive primary ciliary dyskinesia phenotype
Primary ciliary dyskinesia (PCD) is a rare disorder characterized by dysfunction of motile cilia and chronic progressive respiratory disease, mianly inherited in an autosomal recessive manner. Biallelic variants in dynein axonemal heavy chain 11 (DNAH1…
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Pathogenic mechanisms of RPGR mutations in X-linked retinitis pigmentosa: integrating clinical pedigree and single-cell transcriptomics
PurposeThis study aims to identify pathogenic retinitis pigmentosa GTPase regulator (RPGR) mutations in a Chinese pedigree with X-linked retinitis pigmentosa (XLRP) and elucidate the cellular and molecular mechanisms underlying RPGR-associated photorec…
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Glycogenin-1 deficiency: a case report and review of the literature
Pathogenic biallelic variants in GYG1, encoding for glycogenin-1, are associated with polyglucosan bodies myopathy characterized by muscle accumulation of deposits of amylopectin-like polysaccharides (MIM 616199). So far, only few cases (
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A 3′UTR polymorphism disrupts IRF2BP2 autoregulation through an eIF4H translational enhancer
IntroductionInterferon regulatory factor 2 binding protein 2 (IRF2BP2) suppresses the interferon response and inflammation. Individuals who carry 2 copies of a genetic variant (rs3045215) that deletes 9 nucleotides from the long 3′UTR of IRF2BP2 have l…
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A missense variant in Exon 9 of the ASNS gene causes splicing abnormality in an Infant with asparagine synthetase deficiency
Asparagine Synthetase Deficiency (ASNSD) is a rare neurodevelopmental disorder primarily caused by pathogenic homozygous or compound heterozygous variants in the ASNS gene. Clinical manifestations typically include microcephaly, severe psychomotor deve…
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Case Report: A case series of using whole exome sequencing to detect novel variants in Vietnamese patients with inborn errors of immunity
BackgroundInborn errors of immunity (IEIs) are rare diseases that affect the immune system. Variants in over 500 genes have been identified as causative of 555 IEIs, with clinical phenotypes that can be heterogeneous within the same gene or even within…
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Ischemic stroke as an initial manifestation of Loeys-Dietz syndrome type 3 caused by the recurrent p.Arg287Trp variant in SMAD3: a case report with familial context
BackgroundLoeys-Dietz syndrome type 3 (LDS3) is a rare autosomal dominant connective tissue disorder caused by pathogenic variants in SMAD3. While characteristic features include aortic aneurysm, hypertelorism, and bifid uvula, ischemic stroke as the p…