Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.
Prader-Willi syndrome (PWS) is caused by deficiency for one or more paternally expressed imprinted transcripts within chromosome 15q11-q13, including SNURF-SNRPN and multiple small nucleolar RNAs (snoRNAs). Balanced chromosomal translocations that preserve expression of SNURF-SNRPN and centromeric genes but separate the snoRNA HBII-85 cluster from its promoter cause PWS. A microdeletion of the HBII-85 snoRNAs in a child with PWS provides, in combination with previous data, effectively conclusive evidence that deficiency of HBII-85 snoRNAs causes the key characteristics of the PWS phenotype, although some atypical features suggest that other genes in the region may make more subtle phenotypic contributions.
Sahoo
Trilochan
T
Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
del Gaudio
Daniela
D
German
Jennifer R
JR
Shinawi
Marwan
M
Peters
Sarika U
SU
Person
Richard E
RE
Garnica
Adolfo
A
Cheung
Sau Wai
SW
Beaudet
Arthur L
AL
D001324:Autoantigens / Q000235:genetics; D002675:Child, Preschool; D019457:Chromosome Breakage; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D005260:Female; D018392:Genomic Imprinting; D006801:Humans; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics; D010375:Pedigree; D011218:Prader-Willi Syndrome / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D020537:RNA, Small Nucleolar / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017411:Ribonucleoproteins, Small Nuclear / Q000235:genetics; D014158:Transcription, Genetic; D055517:snRNP Core Proteins
D001324:Autoantigens; D009687:Nuclear Proteins; D012333:RNA, Messenger; D020537:RNA, Small Nucleolar; D017411:Ribonucleoproteins, Small Nuclear; C526417:SNRPN protein, human; C445239:SNURF protein, human; D055517:snRNP Core Proteins