title: Genetic studies of Prader-Willi patients provide evidence for conservation of genomic architecture in proximal chromosome 15q.
abstract: Prader-Willi syndrome (PWS) is a neurogenetic disorder associated with recurrent genomic recombination involving low copy repeats (LCRs) located in the human chromosome 15q11-q13. Previous studies of PWS patients from Asia suggested that there is a higher incidence of deletion and lower incidence of maternal uniparental disomy (mUPD) compared to that of Western populations. In this report, we present genetic etiology of 28 PWS patients from Taiwan. Consistent with the genetic etiology findings from Western populations, the type II deletion appears to be the most common deletion subtype. Furthermore, the ratio of the two most common deletion subtypes and the ratio of the maternal heterodisomy to isodisomy cases observed from this study are in agreement with previous findings from Western populations. In addition, we identified and further mapped the deletion breakpoints in two patients with atypical deletions using array CGH (comparative genomic hybridization). Despite the relatively small numbers of patients in each subgroup, our findings suggest that the genomic architecture responsible for the recurrent recombination in PWS is conserved in Taiwanese of the Han Chinese heritage and Western populations, thereby predisposing chromosome 15q11-q13 to a similar risk of rearrangements.
authors.affiliation: School of Biological Sciences, Nanyang Technological University, Singapore, Singapore.
authors.forename: Aihua
authors.initials: A
authors.lastname: Hou
authors.forename: Shuan-Pei
authors.initials: SP
authors.lastname: Lin
authors.forename: Shi Yun
authors.initials: SY
authors.lastname: Ho
authors.forename: Chi-Fung Jennifer
authors.initials: CF
authors.lastname: Chen
authors.forename: Hsiang-Yu
authors.initials: HY
authors.lastname: Lin
authors.forename: Yen-Juin
authors.initials: YJ
authors.lastname: Chen
authors.forename: Chi-Yu
authors.initials: CY
authors.lastname: Huang
authors.forename: Huei-Ching
authors.initials: HC
authors.lastname: Chiu
authors.forename: Chih-Kuang
authors.initials: CK
authors.lastname: Chuang
authors.forename: Ken-Shiung
authors.initials: KS
authors.lastname: Chen
mesh_terms: D044466:Asian People; D056905:Chromosome Breakpoints; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D017124:Conserved Sequence; D006801:Humans; D011218:Prader-Willi Syndrome / Q000235:genetics*; D013624:Taiwan; D024182:Uniparental Disomy; D044465:White People