Gene: [18q21/CORD1] cone-rod dystrophy 1 (autosomal dominant);
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PAT |
A patient that was under investigation from eight to 20 years of age manifested microcephaly, mental retardation, hypogonadism, central postsynaptic hearing deterioration, as well as sever vision disturbances. The cytogenetic analysis performed at the age of 19 revealed the deletion of a part of the Chr 18 long arm. The electroretinography confirmed the retinal degeneration, both cods and cones being affected. Parents as well as the younger sister of the patient were healthy, and no chromosomal abnormalities were found in them. Investigation of three other patients, with less lengthy deletions of the terminal part of the Chr 18 long arm did not reveal retinal distrophy. On the basis of comparison of the deleted regions, a conclusion was made about the localization of one of loci determining retinal dystrophy in 18q21 (Warburg-1991). About other forms of retinal cone-rod dystrophy see GEM:19q133/CORD2, GEM:00.0/CORD4; GEM:17p1/CORD5; GEM:17p1/CORD6." |
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REF |
ASS "Ferrell RE &: Am J Med Genet, 8, 363-369, 1981 HIS,PHE "Hittner HM &: Doc Ophthal, 39, 29-52, 1975 LOC,CYG "Warburg M &: Am J Med Genet, 39, N3, 288-293, 1991 |
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KEY |
eye, neu |
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CLA |
unknown, basic |
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LOC |
18 q21 |
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MIM |
MIM: 600624 |
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