A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay.
We report a 3.1-Mb de novo deletion of 3p21.31 in a 3.5-year-old female with cortical blindness, cleft lip, CNS abnormalities, and gross developmental delays. Examination of the region showed approximately 80 genes to be involved in the deletion. Functional analysis of the deleted genes suggests that several of them may be important in normal neuronal maturation and function. Thus, haploinsufficiency of one or more of these genes could potentially contribute to the observed phenotype. Our patient does not have clinical features that overlap completely with either proximal or distal 3p deletions, suggesting that the deletion seen in our patient leads to a distinct clinical phenotype not described previously.
Haldeman-Englert
Chad R
CR
Division of Human Genetics, Bioinformatics Core, Center for Applied Genomics, Children's Hospital of Philadelphia, and Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
Gai
Xiaowu
X
Perin
Juan Carlos
JC
Ciano
Melissa
M
Halbach
Sara S
SS
Geiger
Elizabeth A
EA
McDonald-McGinn
Donna M
DM
Hakonarson
Hakon
H
Zackai
Elaine H
EH
Shaikh
Tamim H
TH
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D019575:Blindness, Cortical / Q000235:genetics; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics / Q000473:pathology; D002893:Chromosomes, Human, Pair 3; D002971:Cleft Lip / Q000235:genetics; D000013:Congenital Abnormalities / Q000235:genetics*; D015342:DNA Probes; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide; D013997:Time Factors
D015342:DNA Probes