Publications by authors named "L Turolla"
Article Synopsis
- * A study in Northeastern Italy analyzed 57 patients with GJB2/GJB6 mutations and categorized them by mutation types, revealing 59.64% had homozygous mutations and distinct hearing thresholds based on genotype.
- * The findings suggest further research is needed to deepen understanding of the clinical and audiological characteristics tied to GJB2/GJB6 mutations, indicating that larger studies are essential for broader confirmation.
Article Synopsis
- - Deleterious variants in collagen genes are a primary cause of hereditary connective tissue disorders (HCTD), and there's a need for better adaptations of existing classification criteria by ACMG/AMP.
- - A multidisciplinary team developed tailored ACMG/AMP specifications for key collagen genes, effectively classifying pathogenic variants, particularly focusing on null alleles and certain glycine substitutions.
- - The new criteria aim to clarify the interpretation of genetic variants in HCTD, helping reduce ambiguities and improving the clinical application of molecular testing by fostering better collaboration between labs and clinicians.
Background: In NANS deficiency, biallelic mutations in the -acetylneuraminic acid synthase () gene impair the endogenous synthesis of sialic acid (-acetylneuraminic acid) leading to accumulation of the precursor, -acetyl mannosamine (ManNAc), and to a multisystemic disorder with intellectual disability. The aim of this study was to determine whether sialic acid supplementation might be a therapeutic avenue for NANS-deficient patients.
Methods: Four adults and two children with NANS deficiency and four adult controls received oral NeuNAc acid (150 mg/kg/d) over three days.