TL;DR
The importance of genetic testing for identifying rare PCD variants, facilitating early diagnosis and informing clinical management to improve long-term outcomes is highlighted.
Congenital myasthenic syndromes (CMS) comprise a heterogeneous group of inherited disorders caused by genetic defects affecting neuromuscular junction transmission. Clinical manifestations range from isolated ocular symptoms to severe neonatal respiratory insufficiency. Despite symptom onset early in life, CMS is frequ...
Variants in the CFTR and SFTPC genes may be associated with PCD in children, and this case highlights the importance of early genetic variant testing and ciliary ultrastructural analysis in children with recurrent respiratory tract infections, bronchiectasis, or chronic sinusitis.
Riddle syndrome is a rare autosomal recessive disorder caused by RNF168 mutations, characterized by radiosensitivity, immunodeficiency, and dysmorphic features. We reported the first Asian family cluster involving a homozygous RNF168 c.91T>C (p.Cys31Arg) mutation in three siblings. The proband, a 37-year-old female, pr...
Children presenting with progressive gait abnormality may suffer from a genetic disorder. NDUFS1-related mitochondrial complex I deficiency is a rare disorder with highly variable phenotypes. Predominant axonal neuropathy without prominent systemic metabolic dysfunction is unusual. Expanding reports of such prese...
Axenfeld-Rieger syndrome (ARS) is a rare genetic disorder characterised by a broad phenotypic spectrum and variable expressivity with characteristic ocular anterior segment dysgenesis, glaucoma and systemic manifestations. ARS is primarily associated with pathogenic variants in FOXC1 and PITX2, which both exhibit autos...
The case of an 8-month-old female infant referred for evaluation of multisystemic complications presented with gastrointestinal complications including vomiting and diarrhea, expanding the clinical spectrum of 19p13.3 microdeletion syndrome and underscores the importance of genomic analysis in understanding the underly...
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