Publications by Mathilde Pujalte

Publications by authors named "Mathilde Pujalte"

Clin Genet

September 2024

Xq28 int22h-1/int22h-2 duplication results from recombination between specific genetic repeats and is linked to a form of intellectual disability along with recurrent infections and atopic diseases.
In a study involving 15 families, many carriers exhibited mild or no symptoms, suggesting that the condition can manifest variably.
The findings point towards potential incomplete penetrance, meaning not all carriers show obvious signs of the condition, indicating a need for further research to understand the genetic implications better.

Am J Med Genet A

July 2024

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.

Eur J Obstet Gynecol Reprod Biol

January 2023

Genuine empty follicle syndrome (gEFS) is a rare infertility issue where cumulus-oocyte complexes are present but no oocytes are found after IVF egg retrieval, linked to mutations in zona pellucida (ZP) proteins.
A study focused on a 35-year-old woman diagnosed with gEFS revealed a new genetic variant in the ZP1 gene that likely disrupts protein assembly, explaining the absence of oocytes in her case after retrieval attempts.
The findings suggest that genetic testing for ZP genes should be considered for similar infertility cases, allowing for better genetic counseling and potential treatment options like IVF adjustments or oocyte donation.