Premium
Familial syndrome of progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction
Author(s) -
Berg Kark,
Larsen Ingegerd Frøyshov,
Hansen Egill
Publication year - 1978
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1978.tb04249.x
Subject(s) - medicine , dystrophy , endocrine system , degenerative disease , disease , endocrinology , genetics , pathology , biology , hormone
A syndrome of progressive cone dystrophy, endocrine dysfunctions and degenerative liver disease has been observed in seven patients, six of whom belonged to one extensive kindred. Genetic analyses revealed a segregation ratio indicating autosomal recessive inheritance of the syndrome, and the kindred from which six of the seven patients originated was heavily inbred. Thus, the results of the segregation analyses as well as of the inbreeding analyses provide evidence that this previously unrecognized disorder is inherited as an autosomal recessive trait. Genetic marker analyses were conducted with respect to 22 marker systems, and linkage information was obtained with respect to 15 of them. No strong suggestion of linkage emerged from the analyses, but very close linkage could be excluded for several of the genetic marker systems. Pedigree analysis was helpful in establishing the spectrum of clinical manifestations belonging to the syndrome proper. The data presently available suggest that elevated levels of creatine phosphokinase, which were found in all patients, may be useful in tracing heterozygotes for this disorder. This possibility will be further examined.