Publications by authors named "Mathieu Decamp"
Article Synopsis
- Acquired α-thalassemia myelodysplastic syndrome (ATMDS) is linked to mutations in the ATRX gene and occurs in patients with myelodysplastic syndromes (MDS), with a reported incidence below 0.5% in general MDS cases.
- This study specifically examined MDS patients experiencing unexplained microcytosis—small red blood cells not caused by iron deficiency or inherited conditions—and found a higher frequency of ATRX mutations (43% among those cases).
- The research also identified four new mutations in the ATRX gene and emphasizes the role of microcytosis as a useful indicator for detecting these mutations in MDS patients.
Am J Med Genet A
October 2013
Article Synopsis
- West syndrome is a type of epilepsy characterized by infantile spasms, hypsarrhythmia, and developmental delays, often caused by genetic mutations or deletions.
- The idiopathic form of West syndrome has a better prognosis and typically responds well to anti-epileptic treatments.
- A case study of a boy with idiopathic West syndrome revealed a de novo 15q13.3 microdeletion linked to epilepsy, suggesting that genetic exploration of this region should be considered in similar cases.
