Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report.
BACKGROUND
Recently, array-comparative genomic hybridization (aCGH) platforms have significantly improved the resolution of chromosomal analysis allowing the identification of genomic copy number gains and losses smaller than 5 Mb. Here we report on a young man with unexplained severe mental retardation, autism spectrum disorder, congenital malformations comprising hypospadia and omphalocele, and episodes of high blood pressure. An ~ 6 Mb interstitial deletion that includes the causative genes is identified by oligonucleotide-based aCGH.


RESULTS
Our index case exhibited a de novo chromosomal abnormality at 2q22 [del(2)(q22.1q22.3)dn] which was not visible at the 550 haploid band level. The deleted region includes eight genes: HNMT, SPOPL, NXPH2, LOC64702, LRP1B, KYNU, ARHGAP15 and GTDC1.


CONCLUSIONS
aCGH revealed an ~ 6 Mb deletion in 2q22.1 to 2q22.3 in an as-yet unique clinical case associated with intellectual disability, congenital malformations and autism spectrum disorder. Interestingly, the deletion is co-localized with a fragile site (FRA2K), which could be involved in the formation of this chromosomal aberration. Further studies are needed to determine if deletions of 2q22.1 to 2q22.3 define a new microdeletion syndrome.
Instituto Fernandes Figueira, IFF/FIOCRUZ, Departamento de Genética Médica, Av, Rui Barbosa, 716, Flamengo, Rio de Janeiro, RJ 22250-020, Brazil. llerena@iff.fiocruz.br.
Milene Vianna
MV
Mulatinho
Cassio Luiz
CL
de Carvalho Serao
Fernanda
F
Scalco
David
D
Hardekopf
Sona
S
Pekova
Kristin
K
Mrasek
Thomas
T
Liehr
Anja
A
Weise
Nagesh
N
Rao
Juan Clinton
JC
Llerena