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Literature Reviews: The Gene — A Multipurpose Tool: Correlation of Cognitive, Neurologic, and Ovarian Outcome With the Q188R Mutation of the Galactose-1-Phosphate Uridyltransferase Gene Kaufman FR, Reichardt JKV, Ng WG, et al. J Pediatr. 1994; 125:225-227

The authors, choosing to study a specific mutation, Q188R, known to be the most common DNA molecular abnormality resulting in phenotypic classic galactosemia, sought a correlation between the specific gene mutation and a predictable clinical phenotype. Of 67 classic galactosemic subjects (35 females) followed in two separate genetics clinics, a total of 38 was found by polymerase chain reaction (PCR) technique to be homozygous for the Q188R abnormality. A common neurologic triad of tremor, ataxia, and dysmetria, often clinically apparent in classic galactosemics, was present in only six homozygous and five heterozygous subjects. By contrast, 31 Q188R homozygotes did not present any of these findings. Cognitive function assessment among Q188R homozygotes did not differ from that of heterozygotes or non-Q188R individuals. There was no statistical difference between Q188R homozygous females >13 years of age and those with heterozygote status or other mutations with respect to deficiency of ovarian function. The authors conclude that, despite the frequency of the Q188R mutation among classic galactosemic individuals, their findings do not support the hypothesis that homozygosity for this mutation might be intrinsically responsible for a poor clinical outcome compared with other mutations causing classic galactosemia.