A syndrome of severe mental retardation, spasticity, and tapetoretinal degeneration linked to chromosome 15q24.
Nine affected individuals are described from a large extended Pakistani family manifesting a syndrome characterized by a triad of varying degrees of spasticity, severe mental retardation, and visual impairment resulting from tapetoretinal degeneration. In all cases, the parents were at least first cousins, since there was complex consanguinity within the pedigree. The clinical features differ from previously reported syndromes involving pigmentary retinal degeneration and appear to represent a new recessively inherited neurodegenerative condition. Linkage to a 4-5 cM-region between markers D15S211 and D15S152 on 15q24 has been established by autozygosity mapping.
Mitchell
S J
SJ
University of Birmingham, Clinical Genetics Unit, Birmingham Women's Hospital, Edgbaston, Birmingham, United Kingdom.
McHale
D P
DP
Campbell
D A
DA
Lench
N J
NJ
Mueller
R F
RF
Bundey
S E
SE
Markham
A F
AF
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D002884:Chromosomes, Human, Pair 15; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009128:Muscle Spasticity / Q000235:genetics*; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012720:Severity of Illness Index; D013577:Syndrome