Molecular and clinical studies in 8 patients with Temple syndrome

Clinical Genetics
Gabriele Gillessen-KaesbachJ Beygo

Abstract

Temple syndrome (TS14, #616222) is a rare imprinting disorder characterised by phenotypic features including pre- and postnatal growth retardation, muscular hypotonia and feeding difficulties in infancy, early puberty and short stature with small hands and feet and often truncal obesity. It is caused by maternal uniparental disomies, paternal deletions and primary imprinting defects that affect the chromosomal region 14q32 and lead to a disturbed expression of imprinted genes in this region. Here, we present detailed clinical data of 8 patients with Temple syndrome, 4 with an imprinting defect, 2 with an imprinting defect in a mosaic state as well as 1 complete and 1 segmental maternal uniparental disomy of chromosome 14.

References

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Citations

Sep 20, 2018·Epigenetics : Official Journal of the DNA Methylation Society·Jasmin BeygoKarin Buiting
Feb 19, 2020·Human Reproduction Update·Miriam ElbrachtThomas Eggermann
Jun 28, 2020·Human Molecular Genetics·Rexxi PrasasyaMarisa S Bartolomei

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