Publications by authors named "F Jobic"
Proteus syndrome (PS) is a rare disorder (< 1/1000000), marked by progressive overgrowth commonly impacting the skeleton, skin, adipose tissue, and central nervous system. Clinical criteria were established in 2019. PS arises from a somatic activating variation in the AKT1 gene.
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- - Cat Eye Syndrome (CES) is a rare genetic disorder linked to a marker chromosome from chromosome 22, leading to diverse symptoms including iris coloboma, anal atresia, and preauricular tags, but these are present in less than half of the cases.
- - An international study of 43 CES patients found that only 16% displayed all three classic symptoms, while 9% showed none; additional issues such as cardiac anomalies (51%) and intellectual disabilities (47%) were also common.
- - The study highlights the significance of supernumerary marker chromosomes (sSMC), found in 91% of cases, with many parents showing mild traits, emphasizing the need for genetic counseling regarding recurrence risks.
Article Synopsis
- - The study focused on collecting and analyzing cases of fetuses with 7q11.23 copy number variations (CNVs), specifically Williams-Beuren syndrome (WBS) and 7q11.23 duplication, to enhance understanding of their prenatal features.
- - Researchers gathered clinical and ultrasound data from 40 fetuses with WBS, finding that common issues included intra-uterine growth retardation (IUGR), cardiovascular defects, and other notable signs.
- - The findings confirm that 7q11.23 CNVs lead to a variety of prenatal presentations, with IUGR and cardiovascular issues being the most prevalent, aiming to help identify distinctive signs in affected fetuses.
Biallelic gene defects in MFSD8 are not only a cause of the late-infantile form of neuronal ceroid lipofuscinosis, but also of rare isolated retinal degeneration. We report clinical and genetic data of seven patients compound heterozygous or homozygous for variants in MFSD8, issued from a French cohort with inherited retinal degeneration, and two additional patients retrieved from a Swiss cohort. Next-generation sequencing of large panels combined with whole-genome sequencing allowed for the identification of twelve variants from which seven were novel.
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