Epigenomic and phenotypic characterization of DEGCAGS syndrome.

doi:10.1038/s41431-024-01702-y

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Article

Epigenomic and phenotypic characterization of DEGCAGS syndrome.

European journal of human genetics : EJHG - 1 Dec 2024

Karimi Karim, Weis Denisa, Aukrust Ingvild, Hsieh Tzung-Chien, Horackova Marie, Paulsen Julie, Mendoza Londono Roberto, Dupuis Lucie, Dickson Megan, Lesman Hellen, Lau Tracy, Murphy David, Hama Salih Khalid, Al-Musawi Bassam M S, Al-Obaidi Ruqayah G Y, Rydzanicz Malgorzata, Biela Mateus, Santos Mafalda Saraiva, Aldeeri Abdulrahman, Gazda Hanna T, Pais Lynn, Shril Shirlee, Døllner Henrik, Bartakke Sandip, Laccone Franco, Soltysova Andrea, Kitzler Thomas, Soliman Neveen A, Relator Raissa, Levy Michael A, Kerkhof Jennifer, Rzasa Jessica, Houlden Henry, Pilshofer Gabriela V, Jobst-Schwan Tilman, Hildebrandt Friedhelm, Sousa Sergio B, Maroofian Reza, Yu Timothy W, Krawitz Peter, Sadikovic Bekim, Douzgou Houge Sofia

Abstract excerpt

Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities syndrome (DEGCAGS, MIM #619488) is caused by biallelic, loss-of-function (LoF) ZNF699 variants, and is characterized by variable neurodevelopmental disability, discordant organ anomalies among full siblings and infant mortality. ZNF699 encodes a KRAB zinc finger protein of unknown function. We aimed to investigate...

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Identifiers

PMID: 39424669
DOI: 10.1038/s41431-024-01702-y
PMCID: PMC11606972

Genes

ZNF699

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