Categoría: Case Report

We report a family with congenital myopathy-16 (CMYO16; MIM 618524) due to a novel heterozygous MYBPC1 M-motif variant, c.779G>A p (Arg260His), in whom oral pyridostigmine was associated with apparent clinical benefit in all four affected members acros…

IntroductionRing chromosome 21 (r (21)) is a rare constitutional rearrangement involving terminal deletions and significant phenotypic heterogeneity. High-resolution genomic analyses have demonstrated that ring chromosomes may harbor complex genomic im…

Partial trisomy of the short arm of chromosome 19 (19p) is a rare chromosomal abnormality with significant clinical implications. We report the prenatal diagnosis and 7-year follow-up of a boy with partial trisomy 19p13.3-p13.2 and multiple congenital …

Pathogenic deep intronic variants are an underrecognized cause of inherited disorders because they are typically missed by exon-focused sequencing and often require functional validation. We describe a patient with classic CLN7 disease caused by a prev…

BackgroundHarel–Yoon syndrome (HAYOS) is a rare neurometabolic disorder caused by pathogenic variants in the ATAD3A gene, a key regulator of mitochondrial dynamics and cellular homeostasis. Although a broad phenotypic spectrum has been described, the r…

BackgroundSLC29A3-related disorder spectrum encompasses rare autosomal recessive conditions characterized by multisystem involvement, including immunodeficiency, lymphoproliferation, cutaneous findings, endocrine dysfunction, and growth failure. The cl…

BackgroundRuns of Homozygosity (ROH) are long, uninterrupted stretches of the genome in which an individual is homozygous at virtually every assayed variant. Uniparental disomy (UPD) is an epigenetic anomaly in which both copies, or a portion of a pair…

Congenital dislocation of the knee (CDK) is a rare malformation that severely affects the quality of life of affected fetuses and imposes a heavy burden on families and society. Its etiology remains unclear and may be related to genetic factors, quadri…

BackgroundWilson disease (WD) and tuberous sclerosis complex (TSC) are rare genetic disorders with distinct pathophysiologies. Their co-occurrence has not been previously reported. When atypical clinical features emerge in a patient with an established…

Oocyte maturation arrest (OMA) is a rare cause of female infertility characterized by impaired oocyte maturation and recurrent failure of assisted reproductive technologies. Recent studies have identified DLGAP5 as a critical regulator of meiotic spind…