Imprinting syndromes and related disorders

Over the past years syndromes are increasingly reported on, that are caused by molecular mutations of imprinted genes and genomic regions. Part of these Imprinting diseases include for example the well-known Prader-Willi-, Angelman-, Beckwith-Wiedemann- und Silver-Russell-Syndrome, but also Transient neonatal Diabetes mellitus und Pseudohypoparathyrodidism. As new entities the Temple-Syndrome, the Kagami-Ogata-Syndrome and the maternal uniparental disomy 20 have been added. Further information one can find here.

All these diseases are characterized by similar molecular alterations of imprinted genes (e.g. EPD, CNVs, epi mutations, point mutations) and overlapping phenotypes. The institute for human genetics offers (methylation specific) diagnostic tests (e.g. MLPA, SNPArray) for all known imprinting disorders including the known (epi) mutation types. For individual diseases NGS-multi gene panels are also offered that cover differential diagnostic clinical pictures.

Based on this widely applied molecular screening it is possible to also detect rare types of (epi) mutations.

The research concerning imprinting diseases is focused on the 11p15-associated Silver-Russel-Syndrom and Beckwith-Wiedemann-Syndrome. However, due to the involvement in national and international research networks/associations an extensive expertise in other imprinting syndromes/diseases is available (BMBF-Forschungsverbund, European Network of Imprinting Disorders, EUCID.net).

Sub-Panels:

The following genes are analysed as part of scientific investigations regarding the Silver-Russel-Syndrome:

ANKRD11, BLM, CDKN1C, CUL7, HMGA2, IGF1, IGF2, PCNT, PIK3R1, PLAG1, SRCAP, TRIM37

In addition, the following genes are recorded in a scientific context:

ARSB, CCDC8, CDC45, CDC6, CDT1, COL1A1, COL2A1, COPG2, CUL7, DLK1, GMNN, GRB10, HRAS, IGF1R, IGF2BP3, IGF2R, IGFBP3, MCM5, MEG3, MEST, NBN, NSD1, OBSL1, ORC1, ORC4, ORC6, RTL1, SGCE

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GPC3, GPC4, DIS3L2, HRAS, NSD1, NFIX, CDKN1C

Order and consent for genetic testing