The refinement of the critical region for the 2q31.2q32.3 deletion syndrome indicates candidate genes for mental retardation and speech impairment.
Current literature provides more than 30 patients with interstitial deletions in chromosome 2q31q33. Only a few of them were studied using high-resolution methods. Among these, two patients had presented with a particular consistence of some clinical features associated to a deletion between bands q31.2 and q32.3 of chromosome 2. This clinical pattern, labeled as "2q31.2q32.3 syndrome," consists of multiple dysmorphisms, developmental delay, mental retardation and behavioural disturbances. We report an adult female patient with a 4.4 Mb deletion in the 2q31.2q32.3 region, showing facial dysmorphisms, mental retardation and absence of speech. The region overlaps with the deletion found in the two cases previously reported. The critical region points to a few genes, namely NEUROD1, ZNF804A, PDE1A, and ITGA4, which are good candidates to explain the cognitive and behavioural phenotype, as well as the severe speech impairment associated with the 2q31.2q32.3 deletion.
Cocchella
Alessandro
A
Division of Medical Genetics, Galliera Hospital, Genova, Italy.
Malacarne
Michela
M
Forzano
Francesca
F
Marciano
Carmela
C
Pierluigi
Mauro
M
Perroni
Lucia
L
Faravelli
Francesca
F
Di Maria
Emilio
E
D000293:Adolescent; D000328:Adult; D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2; D054677:Cyclic Nucleotide Phosphodiesterases, Type 1 / Q000235:genetics; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D051741:Kruppel-Like Transcription Factors / Q000235:genetics; D013064:Speech Disorders / Q000235:genetics*
D051792:Basic Helix-Loop-Helix Proteins; D054677:Cyclic Nucleotide Phosphodiesterases, Type 1; D051741:Kruppel-Like Transcription Factors; C093970:NEUROD1 protein, human; C540527:ZNF804A protein, human; C517265:PDE1A protein, human