Categoría: Case Report
-
A rare de novo contiguous 15q11.1-q13.3 duplication with tetrasomy (CN=4) and adjacent trisomy (CN=3) associated with severe global developmental delay, autism spectrum disorder, and subclinical epileptiform discharges: a case report and literature review
Background15q11.2–q13 duplication syndrome (Dup15q; OMIM #608636) is a rare neurodevelopmental disorder. While interstitial duplications (copy number = 3) are relatively well characterized, contiguous rearrangements comprising both tetrasomic (copy num…
-
Case Report: Presymptomatic risdiplam in preterm monozygotic twins with co-occurring spinal muscular atrophy and tuberous sclerosis complex
BackgroundSpinal muscular atrophy (SMA) and tuberous sclerosis complex (TSC) are both rare genetic disorders, and their co-occurrence is expected to be exceptionally uncommon. Although risdiplam has demonstrated efficacy in SMA, evidence regarding its …
-
Glycogen storage disease type VII (Tarui disease): a case report presenting a PFKM variant previously described only in canine models
Glycogen storage disease type VII (GSD-VII), or Tarui disease, is a rare autosomal recessive disorder caused by biallelic loss-of-function variants in the PFKM gene encoding the muscle isoform of phosphofructokinase (PFK), a key enzyme of the glycolyti…
-
Case Report: Differential outcomes associated with the same pathogenic variant: long-term follow-up of a CHARGE syndrome case with a nonsense mutation c.6292C>T in the CHD gene
BackgroundCHARGE syndrome (OMIM #214800) is a rare autosomal dominant multisystem disorder, most commonly attributable to de novo heterozygous loss-of-function pathogenic variants in the CHD7 gene. Pathogenic Pathogenic variants of CHD7 are distributed…
-
Pedigree Case Report of adult-onset phenotypically heterogeneous Krabbe disease
BackgroundKrabbe disease is a rare autosomal recessive leukodystrophy, typically considered a fatal disorder of infancy. Adult-onset forms are uncommon and diagnostically challenging due to their nonspecific presentations.Case presentationWe report a c…
-
Case Report: novel mutations in SMARCA4 cause Coffin-Siris syndrome type 4 with autism spectrum disorder without visual impairment in one patient
Coffin-Siris syndrome type 4 (CSS4; OMIM 614609) is a rare autosomal dominant disorder caused by variants in SMARCA4, encoding the BRG1 ATPase subunit of the BAF chromatin-remodeling complex. Although classically characterized by intellectual disabilit…
-
Amyotrophic lateral sclerosis -plus patient with an intermediate-length CACNA1A allele: a Case Report
Amyotrophic lateral sclerosis (ALS), the most common type of motor neuron disease, primarily manifests as progressive weakness, atrophy, fasciculations, bulbar palsy, and pyramidal tract symptoms. Accumulating evidence indicates that the pathological s…
-
A novel TRPC6 variant (c.131C>T, p.(Pro44Leu)) associated with focal segmental glomerulosclerosis: a case report
BackgroundPathogenic variants in the transient receptor potential cation channel subfamily C member 6 (TRPC6) cause autosomal dominant focal segmental glomerulosclerosis (FSGS). We report a patient with early-onset FSGS carrying a novel TRPC6 variant n…
-
Case Report: Functional validation of a PKD1 c.7489 + 5G>A variant in an ADPKD family
BackgroundAutosomal dominant polycystic kidney disease (ADPKD) is most commonly caused by pathogenic variants in PKD1. Here, we reported the functional characterization of an intronic PKD1 variant identified in an ADPKD-affected family and its subseque…
-
Case Report: First case of paternal mosaicism in Snijders Blok–Fisher syndrome
Snijders Blok–Fisher syndrome (SNIBFIS; OMIM #618604) is a rare autosomal dominant neurodevelopmental disorder caused mainly by de novo variants in POU3F3 gene. Here, we report for the first time, two affected siblings harboring a truncating POU3F3 var…