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Retinitis pigmentosa: problems associated with genetic classification
Author(s) -
Haim Marianne
Publication year - 1993
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.1399-0004.1993.tb03848.x
Subject(s) - retinitis pigmentosa , penetrance , expressivity , genetics , danish , inheritance (genetic algorithm) , biology , medicine , phenotype , gene , philosophy , linguistics
Haim M. Retinitis pigmentosa: problems associated with genetic classification. Clin Genet 1993: 44: 62–70. © Munksgaard, 1993 Genetic classification of retinitis pigmentosa (RP) can be problematic, due to a large number of isolated cases, reduced penetrance, and considerable variation in expressivity. Another confounder is a high proportion of affected female carriers in X‐linked RP. Based on the genetic definitions of five different authors, a reclassification experiment was conducted with 350 Danish families. Agreement existed about a small “nucleus” of familial cases. Most definitions favored autosomal dominant inheritance at the expense of X‐linked. The experiment revealed that methodological differences to a large extent might explain the considerable variation among reported genetic frequencies of retinitis pigmentosa.