An illustration of the genetic and expression map of the PWS critical region (15q11-q13). (IMAGE)
Caption
An illustration of the genetic and expression map of the PWS critical region (15q11-q13). This figure illustrates the genomic structure of the PWS critical region on chromosome 15, showing the location of key genes with paternal (blue), maternal (red), and biparental (teal) expression patterns. Breakpoints BP1, BP2, and BP3 define the boundaries for type I and type II DEL, which differ in the extent of genetic material loss and associated phenotypic outcomes. Type I deletions (BP1-BP3) involve a larger DEL of approximately 6.58 Mb, encompassing genes such as NIPA1, NIPA2, CYFIP1, and TUBGCP5, associated with more pronounced neuropsychiatric symptoms. Type II DEL (BP2-BP3) is smaller, approximately 5.33 Mb, and affects genes important for neurodevelopment, such as MAGEL2 and NDN. The location of SNORD116 is also indicated. Both deletion types include the UBE3A gene, implicated in Angelman syndrome (AS)—(not discussed here), highlighting the complex interplay of genetic factors influencing the unique phenotypic features of PWS.
Credit
Shani Stern
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