Publications by authors named "M L Jacquemont"

Larsen of La Réunion Island syndrome (LRS) is an autosomal recessive condition associated with multiple large joint dislocations, clubfeet, severe dwarfism, and distinctive facial features. LRS is caused by a recurrent homozygous variant in B4GALT7 gene with a founder effect in La Réunion population. Proteoglycans (PG) that are a major component of the extracellular matrix, are composed of a core protein connected to a glycosaminoglycans side chain via a tetrasaccharide linker region.

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Central nervous system (CNS) dural arteriovenous fistulas (DAVF) have been reported in PTEN-related hamartoma tumor syndrome (PHTS). However, PHTS-associated DAVF remain an underexplored field of the PHTS clinical landscape. Here, we studied cases with a PTEN pathogenic variant identified between 2007 and 2020 in our laboratory (n = 58), and for whom brain imaging was available.

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Article Synopsis
  • The PIK3CA-related overgrowth spectrum (PROS) includes conditions caused by mosaic variants in the PIK3CA gene, which can also lead to various cancers, including an increased risk of Wilms tumor (WT).
  • A study of 267 PROS patients found a low overall cancer development rate of 2.2%, with an estimated 5.6% probability of cancer by age 45, suggesting the risk of WT in these patients is relatively low.
  • The findings indicate that routine abdominal ultrasound for cancer detection in PROS might not be necessary, and more long-term studies are needed to better understand the risks of different cancers and their connection to PIK3CA variants.
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Objectives: Our objective was to reinforce clinical knowledge of hearing impairment in KBG syndrome. KBG syndrome is a rare genetic disorder due to monoallelic pathogenic variations of ANKRD11.The typical phenotype includes facial dysmorphism, costal and spinal malformation and developmental delay.

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