Etiqueta: #FrontGenet
-
Genotype-phenotypic correlation in a Chinese patient with isolated lissencephaly sequence caused by 17p13.3p13.2 chromosomal microdeletion: a 6-year follow-up study
BackgroundIsolated lissencephaly sequence (ILS) is a severe neurodevelopmental disorder associated with 17p13.3 microdeletion. This 6-year longitudinal study aimed to systematically characterize physical and neurodevelopmental trajectories of a Chinese…
-
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 …
-
Influence of homozygosity on genomic structural variation analyses for predicting ACL rupture risk in the Labrador Retriever and Rottweiler
IntroductionAnterior cruciate ligament (ACL) rupture is a common orthopaedic disease in dogs, with varying prevalence and genetic susceptibility across different breeds. Here we investigate the association between genomic structural variation (SV) and …
-
Spectrum and carrier frequency of DMD in Yueyang, China: a population-based analysis using NGS and MLPA
BackgroundDuchenne muscular dystrophy (DMD) is an X-linked recessive disorder caused by mutations in the DMD gene. Understanding the carrier frequency and mutation spectrum in specific populations is critical for genetic counseling and early interventi…
-
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…
-
Metabolomic analysis of children with congenital heart disease complicated by neurological developmental abnormalities and CHD7 mutations
ObjectiveThis study aimed to characterize the clinical features and identify serum differential metabolites in children with left-to-right shunt congenital heart disease (CHD) complicated by neurodevelopmental abnormalities (NDA) and harboring CHD7 mut…
-
Novel compound heterozygous SIL1 variants associated with Marinesco-Sjögren syndrome in a Chinese family
BackgroundMarinesco-Sjögren syndrome (MSS) is a rare and disabling genetic disorder caused primarily by pathogenic variants in the SIL1 gene. SIL1 functions as a nucleotide exchange factor for the molecular chaperone BiP within the endoplasmic reticulu…
-
Expanding the genetic landscape of SLC4A1-linked hereditary spherocytosis: discovery of a novel TM9 variant using high-resolution genomic profiling analysis
IntroductionHereditary spherocytosis (HS) is the most common inherited red cell membranopathy caused by defects in erythrocyte membrane and cytoskeletal proteins, including ankyrin, spectrin, band 3, and protein 4.2. Among these, mutations in SLC4A1, w…