Chromosom 14-assoziierte Imprintingsyndrome – Temple- und Kagami-Ogata-Syndrome: Ein klinisches und molekulares Update

Translated title of the contribution: Chromosome 14-associated imprinting syndrome – Temple and Kagami-Ogata syndrome: A clinical and molecular update

Miriam Elbracht, Karin Buiting, Susanne Bens, Reiner Siebert, Bernhard Horsthemke, Gabriele Gillessen-Kaesbach, Thomas Eggermann*

*Corresponding author for this work
3 Citations (Scopus)

Abstract

Corresponding to the known disturbances of the imprinted regions on chromosome 15 (Prader-Willi/Angelman syndrome) and chromosome 11 (Beckwith-Wiedemann/Silver-Russell syndrome), two molecularly opposite syndromes have been reported for the imprinting region 14q32. Due to the first clinical descriptions and the most frequent basic mechanism, these congenital disorders had been named upd(14)mat and upd(14)pat syndromes (upd uniparental disomy). However, these syndromes can also be caused by chromosomal imbalances and epimutations in the same region 14q32, therefore the names Temple syndrome (TS14, upd(14)mat) and Kagami-Ogata syndrome (KOS14, upd(14)pat) have been suggested. KOS14 patients show a characteristic phenotype, which prenatally includes a polyhydramnion, a bell-shaped thorax with coat-hanger ribs, and is associated with a critical perinatal period. The facial gestalt is more or less uniform and includes full cheeks, a prominent philtrum, micrognathia and a short, webbed neck. The first evidence of an increased risk for hepatoblastoma has been reported. In contrast to this severe and typical phenotype, TS14 is associated with milder and less severe features. Major findings are prenatal and postnatal growth retardation and a precocious puberty. The syndrome overlaps both with Prader-Willi Syndrome and Silver-Russel Syndrome. New case descriptions indicate that mental retardation is not a constant feature. The recurrence risk for both syndromes can generally be regarded as small, but it can increase to 50 % for specific molecular subgroups. Therefore, a careful molecular workup for TS14 and KOS14 is needed to discriminate between the different types of mutations and epimutations.

Translated title of the contributionChromosome 14-associated imprinting syndrome – Temple and Kagami-Ogata syndrome: A clinical and molecular update
Original languageGerman
JournalMedizinische Genetik
Volume27
Issue number2
Pages (from-to)247-253
Number of pages7
ISSN0936-5931
DOIs
Publication statusPublished - 20.08.2015

Research Areas and Centers

  • Research Area: Medical Genetics

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