Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis

Article Abstract:

Molecular analysis has been carried out on 13 Prader-Willi syndrome (PWS) patients and 17 Angelman syndrome (AS) patients who have an imprinting defect but no IC deletion. Heteroduplex and partial sequence analysis found no point mutations of the known imprinting center (IC) elements. All patients represent sporadic cases. Some share the maternal AS or paternal PWS 15q11-q13 haplotype with an unaffected sib. The incorrect imprint in non-IC-deletion cases comes from a spontaneous postzygotic or prezygotic error. There is low risk of recurrence. The paternal imprint may be the default one. AS and PWS are brought on by loss of the function of imprinted genes in proximal 15q and in about 2%-4% of the patients the function loss is caused by an imprinting defect. There are implications for imprint-switch models, prenatal diagnosis and genetic counseling.

United Kingdom, Finland, Australia, Israel, Netherlands, Germany, Belgium, Spain, Usage, Chromosome mapping, Genetic disorders, Prader-Willi syndrome

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Genetic factors in congenital diaphragmatic hernia

Article Abstract:

Congenital diaphragmatic hernia (CDH) is a common birth defect associated with high mortality and morbidity and many evidence show that genetic factors play an important role in the development of CDH. These key findings that form the basis for future research are examined.

Science & research, Analysis, Causes of, Gene expression, Diaphragm, Diaphragmatic hernia

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