Schulze A, Hansen C, Baekgaard P, Blichfeldt S, Petersen M B, Tommerup N, Brøndum-Nielsen K
Department of Medical Genetics and Danish Center for Human Genome Research, The John F. Kennedy Institute, University Hospital of Copenhagen in Glostrup.
Acta Paediatr. 1997 Aug;86(8):906-10. doi: 10.1111/j.1651-2227.1997.tb08622.x.
Prader-Willi syndrome (PWS) is a neuroendocrine disorder caused by a non-functioning paternally derived gene(s) within the chromosome region 15q11-q13. Most cases result from microscopically visible deletions of paternal origin, or maternal uniparental disomy of chromosome 15. In both instances no recurrence has been reported. In rare cases, PWS is associated with lack of gene expression from the paternal allele due to an imprinting defect. We report the clinical features and the molecular genetic analysis of the first Danish child with PWS due to a defect of the putative imprinting centre (IC). When the imprinting mutation is inherited from a carrier father, the risk that future children will be affected is theoretically 50%. It is therefore important that these families are referred to a geneticist for counselling and further investigation. Prenatal diagnosis is currently only feasible when the mutation has been identified in the affected child.
普拉德-威利综合征（PWS）是一种神经内分泌疾病，由染色体区域15q11-q13内父源基因功能缺失引起。大多数病例是由于父源微观可见的缺失或母源单亲二体15号染色体所致。在这两种情况下均未报道有复发情况。在罕见病例中，PWS与由于印记缺陷导致父源等位基因缺乏基因表达有关。我们报告了首例因假定印记中心（IC）缺陷而患有PWS的丹麦儿童的临床特征和分子遗传学分析。当印记突变从携带父亲遗传而来时，未来孩子受影响的理论风险为50%。因此，重要的是将这些家庭转介给遗传学家进行咨询和进一步调查。目前只有在受影响儿童中已鉴定出突变时，产前诊断才可行。
