Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia

We identified a 495 Kb interstitial deletion of chromosome Xp22.2, centered on the AP1S2 gene, by means of oligonucleotide array comparative genomic hybridisation (array-CGH) in a child with marked hypotonia in the first months of life, psychomotor retardation, severely delayed walking and speech development, and unspecific dysmorphic facial features. The deletion was inherited from the healthy mother. Point mutations of the AP1S2 gene have been identified in patients with X-linked mental retardation (XLMR). The clinical features of our patient are quite similar to those reported in male patients carrying point mutations, thus suggesting that point mutations and deletions of the AP1S2 gene lead to a recognisable XLMR phenotype in males.

► We described a patient carrying a cryptic microdeletion at Xp22.2.
► The deletion includes the AP1S2 gene.
► To date only AP1S2 point mutations are reported.
► Point mutations and deletions of AP1S2 cause a recognisable XLMR syndrome.