Pseudotrisomy 13 syndrome: use of homozygosity mapping to target candidate genes.

Abstract

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.

• Authors: Renate Marquis-Nicholson, Salim Aftimos, Fern Ashton, Jennifer M Love, Peter Stone, Jeannette McFarlane, Alice M George, Donald R Love
• Journal: Gene (Gene) Vol. 486 Issue 1-2 Pg. 37-40 (Oct 15 2011) ISSN: 1879-0038 [Electronic] Netherlands
• PMID: 21756987 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2011 Elsevier B.V. All rights reserved.

Topics

• Chromosome Mapping
• Chromosomes, Human, Pair 13 (genetics)
• Female
• Fetal Macrosomia (diagnosis, genetics)
• Genes, Recessive
• Hand Deformities, Congenital (diagnosis, genetics)
• Holoprosencephaly (diagnosis, genetics)
• Homozygote
• Humans
• Karyotyping
• Male
• Oligonucleotide Array Sequence Analysis
• Polydactyly (diagnosis, genetics)
• Polymorphism, Single Nucleotide
• Pregnancy
• Trisomy (diagnosis, genetics)