Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.

doi:10.3390/ijms23031815

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Article

Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.

International journal of molecular sciences - 5 Feb 2022

Foroutan Aidin, Haghshenas Sadegheh, Bhai Pratibha, Levy Michael A, Kerkhof Jennifer, McConkey Haley, Niceta Marcello, Ciolfi Andrea, Pedace Lucia, Miele Evelina, Genevieve David, Heide Solveig, Alders Mariëlle, Zampino Giuseppe, Merla Giuseppe, Fradin Mélanie, Bieth Eric, Bonneau Dominique, Dieterich Klaus, Fergelot Patricia, Schaefer Elise, Faivre Laurence, Vitobello Antonio, Maitz Silvia, Fischetto Rita, Gervasini Cristina, Piccione Maria, van de Laar Ingrid, Tartaglia Marco, Sadikovic Bekim, Lebre Anne-Sophie

Abstract excerpt

Wiedemann-Steiner syndrome (WDSTS) is a Mendelian syndromic intellectual disability (ID) condition associated with hypertrichosis cubiti, short stature, and characteristic facies caused by pathogenic variants in the KMT2A gene. Clinical features can be inconclusive in mild and unusual WDSTS presentations with variable ID (mild to severe), facies (typical or not) and other associated malformations (bone, cerebral,...

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PMID: 35163737
DOI: 10.3390/ijms23031815
PMCID: PMC8836705

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