Diagnostic Genetics, LabPlus, Auckland City Hospital, New Zealand.
Gene. 2011 Oct 15;486(1-2):37-40. doi: 10.1016/j.gene.2011.06.028. Epub 2011 Jul 4.
Pseudotrisomy 13 syndrome is characterised by holoprosencephaly with or without polydactyly, but with a normal karyotype. The genetic cause of this syndrome remains unclear, but it is thought to be autosomal recessive. In order to identify possible candidate genes, we identified regions of homozygosity in the DNA of an affected foetus, which was the seventh pregnancy of a healthy non-consanguineous Cook Island Maori couple; this ethnic group derives from a small founder population. Several large regions of homozygosity were identified using a high density array. We excluded two candidate genes that lay within these regions, and suggest that Pseudotrisomy 13 syndrome might not be monogenic and that a larger cohort of patients should be analysed using high density dosage/SNP arrays as well as whole exome sequencing in order to clarify the genetic underpinning of this rare syndrome.
假三体 13 综合征的特征是全前脑伴或不伴多指畸形，但核型正常。该综合征的遗传原因尚不清楚，但据认为是常染色体隐性遗传。为了确定可能的候选基因，我们在受影响胎儿的 DNA 中鉴定了纯合子区域，该胎儿是一对健康非近亲毛利岛夫妇的第七次妊娠；这个族群起源于一个小的奠基人群。使用高密度阵列鉴定了几个大的纯合子区域。我们排除了位于这些区域内的两个候选基因，并建议假三体 13 综合征可能不是单基因的，应该使用高密度剂量/SNP 阵列以及全外显子组测序对更大的患者队列进行分析，以阐明这种罕见综合征的遗传基础。
