遺伝障害と遺伝レポートのジャーナル

A Rett Syndrome Case with Mutation in MECP2 and Deletion of 16p11.2

Bossolani-Martins AL, Moreira DP, Lourenço NCV, Magalhaes ML, Ribeiro CM, Griesi-Oliveira K and Fett-Conte AC

Rett syndrome (RTT) is a rare, severe and progressive neurological disorder, which mainly affects girls. It is due mutations in MECP2, the most prevalent cause of classical RTT. Its common clinical manifestation is the autistic behavior that can be observed in several genetic disorders and in cases with isolated rare copy number variations (CNVs). Deletions of 16p11.2 represent one of the most recurrent, being present in about 1% of ASD cases. This report describes a girl with Rett syndrome and autism who presented both MECP2 mutation and microdeletion of 16p11.2, with developmental delay since birth, besides dysmorphic aspects. To our knowledge, this is the first identification and characterization of a patient with these two genetic alterations. We suggest that this association might contribute to a more severe phenotype.