Publications by authors named "Irene Fuchs"
Early Clinical Diagnosis of PC1/3 Deficiency in a Patient With a Novel Homozygous PCSK1 Splice-Site Mutation.
J Pediatr Gastroenterol Nutr
April 2016
Autosomal recessive proprotein convertase 1/3 (PC1/3) deficiency, caused by mutations in the PCSK1 gene, is characterized by severe congenital malabsorptive diarrhea, early-onset obesity, and certain endocrine abnormalities. We suspected PC1/3 deficiency in a 4-month-old girl based on the presence of congenital diarrhea and polyuria. Sequencing the whole coding region and splice sites detected a novel homozygous PCSK1 splice-site mutation, c.
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- The musculocontractural type of Ehlers-Danlos syndrome (MC-EDS) is a newly recognized clinical condition that falls within the spectrum of congenital neuromuscular and connective tissue disorders.
- The syndrome is characterized by features such as brachycephaly, hyperextensible skin, large joint instability, and recurrent hematomas, with patients identified having specific gene mutations affecting dermatan sulfate biosynthesis.
- This study presents seven additional MC-EDS cases, emphasizing the presence of distinct clinical traits and genetic mutations in affected individuals, which may help increase awareness and understanding of the condition.
Congenital sodium diarrhea (CSD) refers to an intractable diarrhea of intrauterine onset with high fecal sodium loss. CSD is clinically and genetically heterogeneous. Syndromic CSD is caused by SPINT2 mutations.
View Article and Find Full Text PDFObjective: Congenital sodium diarrhoea (CSD) refers to a form of secretory diarrhoea with intrauterine onset and high faecal losses of sodium without congenital malformations. The molecular basis for CSD remains unknown. We clinically characterised a cohort of infants with CSD and set out to identify disease-causing mutations by genome-wide genetic testing.
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