Publications by authors named "G Lalau"
Background: The majority of variants of unknown clinical significance (VUCS) in the CFTR gene are missense variants. While change on the CFTR protein structure or function is often suspected, impact on splicing may be neglected. Such undetected splicing default of variants may complicate the interpretation of genetic analyses and the use of an appropriate pharmacotherapy.
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- - The study investigates the role of the ADGRG2 gene in congenital absence of vas deferens (CAVD), finding that mutations in this gene are significant in cases where no or only one CFTR gene mutation is present.
- - Researchers sequenced the ADGRG2 gene in 53 patients with various CFTR mutation statuses, discovering six new truncating mutations linked to CAVD.
- - They found a 26% mutation frequency in patients with confirmed kidney functionality, indicating that ADGRG2 mutations could frequently occur alongside CFTR mutations but are likely to be the primary cause of CAVD in these cases.
Background: The CFTR genotype remains incomplete in 1% of Cystic Fibrosis (CF) cases, because only one or no disease-causing variants is detected after extended analysis. This fraction is probably higher in CFTR-Related Disorders (CFTR-RD). Deep-intronic CFTR variants are putative candidates to fill this gap.
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- The CFTR gene has over 2,000 variants, most of which are rare, hindering genetic counseling and patient care due to limited data.
- CFTR-France has created a specialized database containing 16,819 variant records from individuals with cystic fibrosis and related disorders, aiding in the interpretation of these rare variants.
- This database combines clinical and genetic information to enhance understanding and classification of variants, serving as a vital resource for diagnostic labs and genetic counseling.
In 80% of infertile men with obstructive azoospermia caused by a congenital bilateral absence of the vas deferens (CBAVD), mutations are identified in the cystic fibrosis transmembrane conductance regulator gene (CFTR). For the remaining 20%, the origin of the CBAVD is unknown. A large cohort of azoospermic men with CBAVD was retrospectively reassessed with more stringent selection criteria based on consistent clinical data, complete description of semen and reproductive excurrent ducts, extensive CFTR testing, and kidney ultrasound examination.
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