Taxon:

Human

Gene:

Kagami-Ogata syndrome (KOS)

Chromosome:

14

Location:

14q32

Description:

Kagami-Ogata Syndrome (KOS) is an imprinting disorder of chromosome 14. It is characterised by a distinctive face, a small bell-shaped thorax with a coat hanger appearance of the ribs, abdominal wall defects, placentomegally and polyhydramnios (Ogata T & Kagami M 2016).
Like Temple syndrome (TS) this disorder involves imprinted genes at 14q32. Around 65% of cases of KOS result from paternal UPD of chromosome 14, resulting in increased expression of paternally expressed genes (such as RTL1). Approximately 20% of cases are due to deletion of the maternal 14q32 locus and around 15% of cases are due to gain of methylation of the MEG3/DLK1 IG-DMR and MEG3 TSS-DMR (Soellner L et al 2017).

Category:

Imprinting disorder

Record:

1431

Last Modified 1/30/2017

Links:

OMIM


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