Corpus callosum abnormalities and the controversy about the candidate genes located in 1q44.
Submicroscopic deletions of 1q44-qter cause severe mental retardation, profound growth retardation, microcephaly and corpus callosum hypo/agenesis in most patients. At least 3 intervals in 1q44 have been described as critical regions containing genes leading to corpus callosum abnormalities. In this report we describe a patient with a de novo small interstitial 1q44 deletion of 1,152 kb detected with 44K oligonucleotide array-CGH (44K Agilent Technologies) and a mild phenotype lacking corpus callosum abnormalities. The first deleted oligonucleotide was located at 242.638 Mb (within the ADSS gene), and the last deleted oligonucleotide at 243.791 Mb (within the KIF26B gene). The clinical and molecular findings of the patient here reported remain consistent with a role for the AKT3 or ZNF238 genes in corpus callosum development.
Orellana
C
C
Hospital Universitario La Fe, Valencia, Spain. orellana_car@gva.es
Roselló
M
M
Monfort
S
S
Oltra
S
S
Quiroga
R
R
Ferrer
I
I
Martínez
F
F
D061085:Agenesis of Corpus Callosum; D002648:Child; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D003337:Corpus Callosum / Q000378:metabolism; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male