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PMID: 9545391 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

A syndrome of severe mental retardation, spasticity, and tapetoretinal degeneration linked to chromosome 15q24.

American journal of human genetics ·Vol. 62 ·No. 5 ·1998-05-00 ·Pages 1070-6

Mitchell SJ, McHale DP, Campbell DA, Lench NJ, Mueller RF, Bundey SE, Markham AF

Abstract

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.

MeSH Terms
Abnormalities, Multiple/genetics Adolescent Adult Child Chromosomes, Human, Pair 15 Female Humans Intellectual Disability/genetics Male Muscle Spasticity/genetics Pedigree Retinitis Pigmentosa/genetics Severity of Illness Index Syndrome
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Mitchell S J
University of Birmingham, Clinical Genetics Unit, Birmingham Women's Hospital, Edgbaston, Birmingham, United Kingdom.
McHale D P
Campbell D A
Lench N J
Mueller R F
Bundey S E
Markham A F
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
DOI
10.1086/301821
Published
1998-05-00
Pages
1070-6
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1377078
Subset
IM
Grants
Wellcome Trust · United Kingdom
External Links
PubMed source DOI: 10.1086/301821 PMC Full Text View journal details
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