Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation.
Here, we present two patients with overlapping de novo microdeletions in chromosome 2p14-p15, mild mental retardation concerning especially language development, as well as mild dysmorphic features. Patient 1 also presented with generalized seizures, sensorineural hearing loss, and relative microcephaly. In patient 1, molecular karyotyping detected a 2.23-Mb deletion in chromosome 2p14-p15 including 11 known genes. The second patient, with a 2.84-Mb microdeletion containing 15 genes, was identified in the DECIPHER database. The two deleted regions overlap by a stretch of 1.6 Mb that contains 10 genes, several of which have functions in neuronal development. This report illustrates the power of databases such as DECIPHER and MRNET in assessing the pathogenicity of copy-number variations (CNVs).
Wohlleber
Eva
E
Institute of Human Genetics, University of Bonn, Biomedizinisches Zentrum, Sigmund-Freud-Strasse 25, D-53105 Bonn, Germany. eva.wohlleber@uni-bonn.de
Kirchhoff
Maria
M
Zink
Alexander M
AM
Kreiss-Nachtsheim
Martina
M
Küchler
Alma
A
Jepsen
Birgit
B
Kjaergaard
Susanne
S
Engels
Hartmut
H
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002648:Child; D002872:Chromosome Deletion; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D030541:Databases, Genetic; D005260:Female; D018628:Gene Dosage; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology*; D007621:Karyotyping; D008297:Male