Publications by authors named "Guy Lalau"
Article Synopsis
- - 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.
Article Synopsis
- 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.
View Article and Find Full Text PDFBackground: Actually, about 2000 sequence variations have been documented in the CFTR gene requiring extensive and multi-step genetic testing in the diagnosis of cystic fibrosis and CFTR-related disorders. We present a two phases study, with validation and performance monitoring, of a single experiment methodology based on multiplex PCR and high throughput sequencing that allows detection of all variants, including large rearrangements, affecting the coding regions plus three deep intronic loci.
Methods: A total of 340 samples, including 257 patients and 83 previously characterized control samples, were sequenced in 17 MiSeq runs and analyzed with two bioinformatic pipelines in routine diagnostic conditions.
Background: The high frequency of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene mutation p.Arg117His in patients with congenital bilateral absence of the vas deferens (CBAVD) and in newborns screened for CF has created a dilemma.
Methods: Phenotypic and genotypic data were retrospectively collected in 179 non-newborn French individuals carrying p.
Article Synopsis
- Genotype-phenotype correlations in cystic fibrosis (CF) face challenges due to variability linked to CFTR gene mutations and complex alleles, prompting a study to clarify the significance of specific complex alleles.
- A total of 153 patients with certain mutations were analyzed, revealing that only three had classical CF, while others presented variations like isolated infertility or were healthy despite severe mutations.
- Functional studies indicated that specific mutations, particularly p.Gly149Arg, lead to severe processing defects, while others moderately or mildly affect CFTR function, underscoring the need for thorough investigations to understand mutation impacts on CF clinical symptoms.
Unlabelled: Pseudo-Bartter's (PB) syndrome characterized by hypokalemic metabolic alkalosis and persistent failure to thrive constitutes a rare typical presentation of cystic fibrosis (CF) with prevalence of 16.8%. We present a case of CF presenting with failure to thrive, dehydration, PB syndrome associated with chest infection and primo-colonization with Pseudomonas aeruginosa.
View Article and Find Full Text PDFAmong the 1700 mutations reported in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, a missense mutation, p.Ser1235Arg, is a relatively frequent finding. To clarify its clinical significance, we collected data from 104 subjects heterozygous for the mutation p.
View Article and Find Full Text PDF