Splice-site mutations: a novel genetic mechanism of Crigler-Najjar syndrome type 1

Article Abstract:

Crigler-Najjar syndrome type 1 (CN-1) is caused by mutation in the noncoding intronic region of the UGT1A1 gene in two patients studied. One was homozygous for a G-->C mutation at the splice-donor site in an intron. The other was heterozygous for an A-->G shift at the splice-acceptor site in intron 3 and in the second allele a premature translation-termination codon in exon 1 was seen. CN-1 is a recessively inherited, potentially lethal defect. It is seen as severe unconjugated hyperbilirubinemia coming from deficiency of the hepatic enzyme bilirubin-UDP-glucuronosyltransferase. No other report of intronic mutations causing CN-1 has been made, nor has determination of the consequences of the mutations on mRNA structure by ex vivo expression been reported

Netherlands, Genetic aspects, Liver, Hyperbilirubinemia

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Proteolipoprotein gene analysis in 82 patients with sporadic Perlizaeus-Merzbacher disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not

Article Abstract:

Sporadic Perlizaeus-Merzbacher disease (PMD), an X-linked developmental myelination defect which segregates with the proteolipoprotein (PLP)l ocus is discussed relative to duplications, the major cause. The duplications originate more frequently in male germ cells, unlike point mutations, which do not, based on proteolipoprotein gene analysis in 82 affected patients, and unequal sister chromatid exchange may be a factor.

Statistical Data Included, Abnormalities, Central nervous system, Sister chromatid exchange, Myelination

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