Categoría: Case Report
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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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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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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…
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Episignature leads to diagnosis and reclassification of DYRK1A variant in a child with syndromic neurodevelopmental disorder: a case report
BackgroundNeurodevelopmental disorders (NDDs) are genetically heterogeneous, and standard genomic testing frequently yields variants of uncertain significance (VUS) or misses cryptic structural variants. Episignature analysis, which detects disorder sp…
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Case Report: Two siblings with a novel homozygous SLC18A2 variant causing parkinsonism-dystonia-2: a case series from Saudi Arabia
BackgroundMonoamine neurotransmitter disorders are rare, early-onset neurological conditions that frequently mimic cerebral palsy or epileptic encephalopathies, resulting in diagnostic delay. Parkinsonism-dystonia-2 (PKDYS2), caused by biallelic varian…
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Case report: Whole-exome sequencing reveals a novel variant in a patient with epilepsy presenting with fever
Epilepsy is a prevalent neurological disorder characterized by recurrent seizures and significant impacts on quality of life. This case report describes a 2-year-old male patient presenting with epilepsy associated with fever, in whom whole-exome seque…
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MYBPC1-associated congenital myopathy with tremor: further delineation of the clinical and pathological phenotype in the first Italian case
The MYBPC1 gene, mapping to chromosome 12q23.2, encodes the slow myosin binding protein-C (sMyBP-C), a sarcomeric accessory protein, expressed mainly in slow skeletal muscle fibers, that aids in the regulation of actomyosin cross-bridges and provides t…
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Case report: co-inheritance of familial lecithin-cholesterol acyltransferase deficiency and α0-Thalassemia
BackgroundFamilial lecithin-cholesterol acyltransferase (LCAT) deficiency and α0-thalassemia are rare autosomal recessive disorders. Although both disease-causing genes reside on chromosome 16, their physical distance typically results in independent i…
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Case Report: Prenatal genetic analysis of a rare fetus with 45, X/46, X, dic r (Y; Y)/46, X, r(Y) karyotype
ObjectiveTo perform a genetic analysis of a rare complex chimeric fetus with a 45,X/46,X,dic r(Y; Y)/46,X,r(Y) karyotype, indicated by NIPT as having sex chromosome abnormalities but with normal ultrasound findings. This study underscores the critical …