Publications by authors named "F Laffargue"
Background: Aarskog-Scott syndrome (AAS) is a rare condition with multiple congenital anomalies, caused by hemizygote variants in the gene. Its description was based mostly on old case reports, in whom a molecular diagnosis was not always available, or on small series. The aim of this study was to better delineate the phenotype and the natural history of AAS and to provide clues for the diagnosis and the management of the patients.
View Article and Find Full Text PDFPurpose: DISP1 encodes a transmembrane protein that regulates the secretion of the morphogen, Sonic hedgehog, a deficiency of which is a major cause of holoprosencephaly (HPE). This disorder covers a spectrum of brain and midline craniofacial malformations. The objective of the present study was to better delineate the clinical phenotypes associated with division transporter dispatched-1 (DISP1) variants.
View Article and Find Full Text PDFArticle Synopsis
- Duplications of the 3q29 chromosomal region are rare genetic variations linked to diverse neurodevelopmental disorders, often causing learning disabilities and neuropsychiatric issues.
- A study involving 31 families revealed different sizes of 3q29 duplications: 14 recurrent, 8 overlapping, and 9 smaller ones, with some patients showing additional genetic factors influencing their conditions.
- Most patients exhibited mild neurodevelopmental disorders, with many duplications being inherited and associated with low rates of intellectual disabilities, suggesting that severe cases might require more detailed genetic examination.
Article Synopsis
- Skeletal dysplasia, a group of disorders impacting bone development and growth in children, involves potentially up to 552 genes, with common mutations identified in specific genes related to conditions like achondroplasia and hypochondroplasia.
- A unique case of a Caucasian adult exhibiting achondroplasia symptoms was studied, revealing an intronic variant that changes FGFR3 function, although no common pathogenic variants were found.
- The study emphasizes the need to refine diagnostic methods and include certain intronic variants in routine tests for better detection of causal mutations, which can enhance patient management and inform new therapeutic strategies.