Publications by authors named "G Jouret"
Introduction: Heterozygous pathogenic variants in NTRK2 (HGNC: 8032) have been associated with global developmental delay. However, only scattered cases have been described in small or general studies. The aim of our work was to consolidate our understanding of NTRK2-related disorders and to delineate the clinical presentation METHODS: We report extended cohort of 44 affected individuals, of whom 19 are from the literature and 25 were previously unreported.
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- - The study focuses on KBG syndrome (KBGS), a rare neurodevelopmental disorder caused by mutations in the ANKRD11 gene, exploring its clinical features in adults, which are less documented compared to children.
- - Researchers collected data on 36 adults with confirmed KBGS from various families and found symptoms such as mild intellectual disabilities, motor difficulties, psychiatric issues, and other health concerns like seizures and vision problems.
- - The findings reveal a diverse range of adult experiences and abilities related to education and employment, contributing to the understanding of long-term outcomes for individuals with KBGS.
Article Synopsis
- Haploinsufficiency of the TRIP12 gene causes Clark-Baraitser syndrome, a neurodevelopmental disorder featuring intellectual disability, epilepsy, autism spectrum disorder, and distinct facial features.
- The study analyzed 38 individuals with TRIP12 variants, identifying 35 different genetic mutations and observing global developmental delays, language deficits, and associated autistic traits in about half of the cases.
- Facial features characteristic of the syndrome were detailed using deep-learning algorithms, revealing traits such as deep-set eyes, downturned mouths, and prominent ears, which can aid in better counseling and management of affected individuals.
Article Synopsis
- Chromosome 1p36 deletion syndrome (1p36DS) is a common genetic disorder resulting from a deletion on the short arm of chromosome 1, affecting 1 in every 5,000 to 10,000 live births in the U.S.
- The syndrome is characterized by a range of health issues including developmental delays, heart defects, and distinct facial features.
- This study analyzed 86 patients in France to compare the incidence of 1p36DS with other syndromes and examined how deletion locations influence specific symptoms and overall management of the disorder.
Purpose: We aimed to investigate the molecular basis of a novel recognizable neurodevelopmental syndrome with scalp and enamel anomalies caused by truncating variants in the last exon of the gene FOSL2, encoding a subunit of the AP-1 complex.
Methods: Exome sequencing was used to identify genetic variants in all cases, recruited through Matchmaker exchange. Gene expression in blood was analyzed using reverse transcription polymerase chain reaction.