A couple visited the genetic counselling clinic to identify the recurrence risk in their planned baby for a severe disease of the central nervous system resembling Lesch-Nyhan syndrome and observed in three maternal male relatives of the wife. A missence mutation of the hypoxantine-guanine-phosphoribosil-transferase gene was identified in the 3. codon of exon IX (TGA→TAA) in two living probands, predicting the replacement of cysteine-206 by tyrosin and confirming the clinical diagnosis of Lesch-Nyhan disease. The molecular genetic analysis excluded the carriership of the prospective mother and later on a healthy boy was born.
|Translated title of the contribution||Molecular genetic diagnosis of the Lesch-Nyhan disease|
|Number of pages||5|
|Journal||Lege Artis Medicinae|
|Publication status||Published - Dec 1 1996|
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