A large deletion (1.5 Mb) encompassing the neurofibromatosis type 1 (NF1) gene in a patient with sporadic NF1 associated with dysmorphism, mental retardation, and unusual ocular and skeletal features.
A 20 year old male patient with sporadic neurofibromatosis type 1 (NF1) is described with a large deletion (1.5 Mb) involving the NF1 gene, dysmorphism, mental retardation, and unusual ocular and skeletal features. Several NF1 patients with a large NF1 deletion and associated dysmorphism, and a large number of neurofibromas for their age have been described. This study indicates that such large deletions can also involve flanking loci which affect ocular and skeletal development.
Oktenli
Cagatay
C
Saglam
Mutlu
M
Demirbas
Seref
S
Thompson
Peter
P
Upadhyaya
Meena
M
Consoli
Claudia
C
Ulucan
Hakan
H
Koz
Cem
C
Durukan
Ali Hakan
AH
Bozkurt
Ali
A
Koc
Bayram
B
Kocar
Ismail Hakki
IH
Gul
Davut
D
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities; D017353:Gene Deletion; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D008297:Male; D009456:Neurofibromatosis 1 / Q000235:genetics* / Q000473:pathology