Publications by authors named "Florence Niel-Butschi"
Turner syndrome: skin, liver, eyes, dental and ENT evaluation should be improved.
Front Endocrinol (Lausanne)
August 2023
Introduction: Turner syndrome association with multi-organ system comorbidities highlights the need for effective implementation of follow-up guidelines. We aimed to assess the adequacy of care with international guidelines published in 2007 and 2017 and to describe the phenotype of patients.
Methods: In this multicenter retrospective descriptive cohort study, we collected growth and pubertal parameters, associated comorbidities, treatment, and karyotype in patients diagnosed at age <18 years between 1993 and 2022.
To assess the potential of detecting copy number variations (CNVs) directly from exome sequencing (ES) data in diagnostic settings, we developed a CNV-detection pipeline based on ExomeDepth software and applied it to ES data of 450 individuals. Initially, only CNVs affecting genes in the requested diagnostic gene panels were scored and tested against arrayCGH results. Pathogenic CNVs were detected in 18 individuals.
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- Long non-coding RNAs (lncRNAs) play a crucial role in gene regulation, but their involvement in human genetic diseases is not well understood.
- Researchers discovered that deleting a specific lncRNA region on chromosome 2 led to severe congenital limb malformations in humans, including features like shortened limbs and fused digits.
- The study identified a lncRNA named Maenli, which is essential for activating the engrailed-1 gene during limb development, revealing how mutations in lncRNA can contribute to Mendelian diseases.
Article Synopsis
- - Non-invasive prenatal testing (NIPT) is gaining popularity for its effectiveness in detecting fetal chromosomal issues, but it can also uncover unexpected health conditions in the mother.
- - A specific case showed that NIPT identified a chromosomal duplication in a fetus that raised concerns about Potocki-Lupski syndrome, but it turned out to be a hereditary condition from the mother, who has Charcot-Marie-Tooth neuropathy.
- - As NIPT expands to cover more genetic conditions, it's important for healthcare providers to prepare for the possibility of discovering maternal health issues during pre-test genetic counseling.
Background: Tissue-specific integrative omics has the potential to reveal new genic elements important for developmental disorders.
Methods: Two pediatric patients with global developmental delay and intellectual disability phenotype underwent array-CGH genetic testing, both showing a partial deletion of the DLG2 gene. From independent human and murine omics datasets, we combined copy number variations, histone modifications, developmental tissue-specific regulation, and protein data to explore the molecular mechanism at play.
Purpose: Investigate the genotype-phenotype correlations for five TGFBI (transforming growth factor, beta-induced) mutations including one novel pathogenic variant and one complex allele affecting the fourth FAS1 domain of keratoepithelin, and their potential effects on the protein's structure.
Methods: Three unrelated families were clinically diagnosed with lattice corneal dystrophy (CD) and one with an unclassified CD of Bowman's layer. Mutations in the TGFBI gene were detected by direct sequencing, and the functional impact of each variant was predicted using in silico algorithms.
Objective: Report of a 16q24.1 deletion in a premature newborn, demonstrating the usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn and multiple congenital malformations.
Design: Descriptive case report.
Since the beginning of population screening for CF carriers, it has become apparent that complex CFTR alleles are not uncommon. Deciphering their impact in disease pathogenesis remains a challenge for both clinicians and researchers. We report the observation of a new complex allele p.
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