Angelman and Prader-Willi syndromes share a common chromosome 15 de...
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):285-90.Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion.1, , , , , .1Division of Genetics, Children's Hospital, Boston, MA 02115.AbstractMany Prader-Willi syndrome (PWS) and Angelman syndrome (AS) patients have a cytogenetic deletion of 15q11q13. While AS and PWS share a similar cytogenetic anomaly, they have very different clinical phenotypes. DNAs from 4 AS patients were examined using 5 chromosome 15q11q13-specific cloned DNA segments. With the present level of resolution, the molecular deletions between AS and those previously reported for PWS did not appear to differ. However, in contrast to the paternal inheritance of the deleted chromosome 15 observed in the majority of PWS patients, maternal inheritance of the deleted chromosome 15 was demonstrated in the AS patients by restriction fragment length polymorphisms (RFLPs).PMID: 2564739
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):719-21. doi: 10.1038/ng.158. Epub
2008 May 25.Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.1, , , , , , , , .1Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.AbstractPrader-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.Comment inPMID:
[PubMed - indexed for MEDLINE] PMCID: PMC2705197 (a,b) Individual showing morbid obesity with facial features as shown. (c) Upper extremities are notable for small hands relative to body size. (d) External genitalia after laparoscopic orchiopexy at 13 months. Parental informed consent, as approved by the Baylor College of Medicine Institutional Review Board, was obtained to publish the photographs.Nat Genet. ;40(6):719-721.(a) A high-resolution oligonucleotide array-CGH plot is shown with loss of a segment in 15q11.2 from position ~22,835,000 bp to ~23,010,100 bp (red arrows). (b) A schematic physical map of the 15q11–q13 genomic interval is shown, highlighting the deleted segment with respect to SNRPN, UBE3A and snoRNAs within the interval. (c) Sequencing of a ~2.6-kb PCR fragment across the breakpoint revealing a deletion of 174,584 bp with an 8 bp insertion at the breakpoint. (d) Methylation analysis by DNA blot hybridization to rule out large deletion, uniparental disomy or imprinting abnormalities. Probe corresponding to SNRPN exon 1 was used for hybridization, and a normal methylation pattern was seen. Lane 1, large deletion AS; 2, large deletion PWS; 3, 4, affected individual. M, methyl UM, unmethylated paternal allele. (e) Expression analysis was carried out using RT-PCR of lymphoblast RNA for SNRPN, snoRNA HBII-85, ESTs AK094315 and AB061718, and UBE3A (size of PCR products is in parentheses). GAPDH was used as internal RT-PCR control. RT+, with r RT-, without reverse transcriptase. Affected individual shows lack of HBII-85 transcript in RT+ lane with presence of transcripts for all other loci tested. Lane 1, 2, large deletion AS; 3, large deletion PWS; 4, affected individual.Nat Genet. ;40(6):719-721.Publication TypesMeSH TermsSubstancesGrant SupportFull Text SourcesOther Literature SourcesMedicalMiscellaneous
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):533-42.The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities.1, , , , , , , , .1Department of Genetics, Case Western Reserve University School of Medicine, 10900 Euclid Avenue, Cleveland, OH , USA.AbstractTranscribed, low-copy repeat elements are associated with the breakpoint regions of common deletions in Prader-Willi and Angelman syndromes. We report here the identification of the ancestral gene ( HERC2 ) and a family of duplicated, truncated copies that comprise these low-copy repeats. This gene encodes a highly conserved giant protein, HERC2, that is distantly related to p532 (HERC1), a guanine nucleotide exchange factor (GEF) implicated in vesicular trafficking. The mouse genome contains a single Herc2 locus, located in the jdf2 (juvenile development and fertility-2) interval of chromosome 7C. We have identified single nucleotide splice junction mutations in Herc2 in three independent N-ethyl-N-nitrosourea-induced jdf2 mutant alleles, each leading to exon skipping with premature termination of translation and/or deletion of conserved amino acids. Therefore, mutations in Herc2 lead to the neuromuscular secretory vesicle and sperm acrosome defects, other developmental abnormalities and juvenile lethality of jdf2 mice. Combined, these findings suggest that HERC2 is an important gene encoding a GEF involved in protein trafficking and degradation pathways in the cell.PMID: 9949213
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):917-23.Prader-Willi syndrome.1.1Department of Genetics, Case Western Reserve University, Cleveland, OH, USA.AbstractPrader-Willi syndrome is a complex disorder affecting multiple systems with many manifestations relating to hypothalamic insufficiency. Major findings include infantile hypotonia, developmental delay and mental retardation, behaviour disorder, characteristic facial appearance, obesity, hypogonadism, and short stature. Obesity and the behavioural problems are the major causes of morbidity and mortality. Prader-Willi syndrome is caused by abnormalities of the imprinted region of proximal 15q and results from absence of the normally active paternal genes in this region. Such absence results from paternal interstitial deletion, maternal uniparental disomy, or a mutation or other abnormality in the imprinting process. Diagnostic identification of all causes has become available in recent years, permitting early detection and institution of appropriate management. This testing has permitted recent identification of some phenotypic differences among affected subjects of different race and between those with deletions and uniparental disomy as a cause.PMID: 9391886
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