Molecular analysis of a patient with neurofibromatosis 1 and achondroplasia.
The gene for von Recklinghausen neurofibromatosis (NF1) is on proximal 17q; the location of the gene for achondroplasia (ACH) is unknown. We have begun a molecular analysis of a patient with mental retardation, NF1 and ACH, a clinical presentation suggestive of a contiguous gene syndrome. In addition, this individual has a 47,XYY chromosome constitution. To define a possible chromosome 17 deletion, we investigated the copy number of DNA sequences linked to NF1 with conventional and pulsed-field gel electrophoresis (PFGE). We found no evidence for a deletion on chromosome 17. These results make it unlikely that this patient harbors a single deletion in the NF1 region causing both NF1 and ACH and suggest different mechanisms for the de novo occurrence of 2 autosomal dominant disorders in this individual.
Pulst
S M
SM
Division of Neurology, Cedars-Sinai Medical Center, University of California, Los Angeles.
Pribyl
T
T
Barker
D F
DF
Riccardi
V M
VM
Ren
M
M
Yaari
H
H
Korenberg
J R
JR
D000130:Achondroplasia / Q000150:complications / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D015342:DNA Probes; D006580:Genetic Carrier Screening; D005819:Genetic Markers; D006720:Homozygote; D006801:Humans; D008297:Male; D009456:Neurofibromatosis 1 / Q000150:complications / Q000235:genetics*; D012016:Reference Values; D015183:Restriction Mapping
D015342:DNA Probes; D005819:Genetic Markers; D004247:DNA