RT Journal Article
SR Electronic
T1 Watson syndrome: is it a subtype of type 1 neurofibromatosis?
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 752
OP 756
DO 10.1136/jmg.28.11.752
VO 28
IS 11
A1 Allanson, J E
A1 Upadhyaya, M
A1 Watson, G H
A1 Partington, M
A1 MacKenzie, A
A1 Lahey, D
A1 MacLeod, H
A1 Sarfarazi, M
A1 Broadhead, W
A1 Harper, P S
YR 1991
UL http://jmg.bmj.com/content/28/11/752.abstract
AB Over 20 years ago, Watson described three families with a condition characterised by pulmonary valvular stenosis, café au lait patches, and dull intelligence. Short stature is an additional feature of this autosomal dominant condition. A fourth family with Watson syndrome has since been reported. We have had the opportunity to review members of three of these four families. The clinical phenotype of Watson syndrome has been expanded to include relative macrocephaly and Lisch nodules in the majority of affected subjects, and neurofibromas in one-third of family members. Because the additional clinical findings enhance the similarity between Watson syndrome and neurofibromatosis 1, molecular linkage studies have been performed using probes flanking the NF1 gene on chromosome 17. Probe HHH202 showed the tightest linkage to Watson syndrome with a maximum lod score of 3.59 at phi = 0.0 (95% confidence limits of phi = 0.0-0.15). This suggests either that Watson syndrome and neurofibromatosis 1 are allelic, or that there is a series of contiguous genes for pulmonary stenosis, neurocutaneous anomalies, short stature, and mental retardation on 17q.