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.
Laboratorio di Citogenetica Medica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Milano, Italy. l.ballarati@auxologico.it
Lucia
L
Ballarati
Anna
A
Cereda
Rossella
R
Caselli
Silvia
S
Maitz
Silvia
S
Russo
Angelo
A
Selicorni
Lidia
L
Larizza
Daniela
D
Giardino
D034002:Adaptor Protein Complex sigma Subunits / Q000235:genetics*; D002648:Child; D005260:Female; D017353:Gene Deletion; D040181:Genetic Diseases, X-Linked; D006801:Humans; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics*; D011596:Psychomotor Disorders / Q000235:genetics*
C516800:AP1S2 protein, human; D034002:Adaptor Protein Complex sigma Subunits