Prader-Willi syndrome is caused by disruption of the SNRPN gene

Article Abstract:

Prader-Willi syndrome (PWS) is the result of disruption in the SNRPN gene, a conclusion based on results of parental-origin studies that show there is no uniparental disomy and no apparent deletion is a described patient. The patient has a de novo balanced translocation with breakpoints between SNRPN exons 2 and 3. the patient does not express SNRPN exons 3 and 4 of D15S226E (PAR5). Methylation studies found normal biparental loci DN34/ZNF127, D15S63 and SNRPN exon 1 loci patterns of inheritance.

Prader-Willi syndrome

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A Huntington disease-like neurodegenerative disorder maps to chromosome 20p

Article Abstract:

A Huntington disease (HD)-like neurodegenerative disorder which maps to chromosome 20p is discussed. An affected family for which all members originate from Sweden and in which there are 21 individuals of three generations was studied with whole-genome screening with highly polymorphic dinucleotide-, trinucleotide-, and tetranucleotide-repeat DNA markers.

Statistical Data Included, Nervous system, Huntington's chorea, Huntington's disease, Nerve degeneration

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