The nosology of Richieri‐Costa/Guion‐Almeida syndrome(s)

Abstract

Richieri-Costa/Guion-Almeida syndrome type 1 (RCGAS1) is a rare MR/MCA syndrome comprising developmental and growth delay, microcephaly, prominent supraorbital ridges, asymmetric ptosis and eyebrows, esotropia, nystagmus, eye colobomas, and cleft lip/palate. It was originally described in three brothers and an additional sporadic male. The same authors also described a further family with a partially overlapping condition in two sisters (Richieri-Costa/Guion-Almeida syndrome type 2, RCGAS2). We report on a sporadic, mentally retarded patient strongly resembling those of the original report of RCGAS1, but lacking some manifestations such as short stature and, possibly, some ocular changes. Results of 200 kb CGH-array study were normal. By comparing the present and previously reported patients with RCGAS1 and 2, we tried to contribute to syndrome delineation and to separate them from conditions with similar facial anomalies.

The exon junction complex: a lifelong guardian of mRNA fate

“…Remarkably, in all of these disorders, changes in EJC protein levels manifest as neurodevelopmental defects and reduced cognitive functions. A syndromic disorder [Richieri‐Costa–Pereira (RCP) syndrome] resulting from either a 5′UTR repeat expansion or a missense mutation in the gene‐encoding eIF4AIII leads to learning and language disabilities in more than 50% of patients . Microdeletions of the chromosome 1 region q21.1 harboring the RBM8A gene are associated with brain size abnormalities and autism spectrum disorders .…”