Publications by authors named "D Capodiferro"
Article Synopsis
- Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare metabolic disorder caused by genetic mutations, affecting the body's ability to process fatty and amino acids, occurring in about 1 in 200,000 live births.
- MADD manifests in three ways: severe neonatal-onset, which may include additional congenital anomalies, and a milder late-onset variant, with diagnosis supported by advanced urine and blood tests.
- Researchers successfully diagnosed a newborn with a unique intronic mutation using whole-genome and RNA sequencing, emphasizing the need to analyze RNA to uncover hidden genetic issues that typical methods might miss.
Article Synopsis
- Classic galactosemia is an inherited liver disorder caused by a deficiency in the GALT enzyme, leading to complications even with a galactose-restricted diet.
- A case study of a two-week-old girl identified her as a compound heterozygote with one known pathogenic variant (p.K285N) and a novel variant (p.A303D), suggesting potential pathogenicity for the latter.
- The research underscores the variability of missense variants in galactosemia and emphasizes the need for genetic analysis to enhance patient care and understanding of the disease's molecular effects.
Background: The rate of chronic drooling in children older than 4 years is 0.5%, but it rises to 60% in those with neurological disorders. Physical and psychosocial consequences lead to a reduction in the quality of Life (QoL) of affected patients; however, the problem remains under-recognized and under-treated.
View Article and Find Full Text PDFThe First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein.
Genes (Basel)
December 2020
Congenital myasthenic syndromes (CMSs) are caused by mutations in genes that encode proteins involved in the organization, maintenance, function, or modification of the neuromuscular junction. Among these, the collagenic tail of endplate acetylcholinesterase protein (COLQ; MIM 603033) has a crucial role in anchoring the enzyme into the synaptic basal lamina. Here, we report on the first case of a patient with a homozygous deletion affecting the last exons of the gene in a CMS patient born to consanguineous parents of Pakistani origin.
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