Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.

doi:10.1016/j.gim.2023.100836

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Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2023

Averdunk Luisa, Huetzen Maxim A, Moreno-Andrés Daniel, Kalb Reinhard, McKee Shane, Hsieh Tzung-Chien, Seibt Annette, Schouwink Marten, Lalani Seema, Faqeih Eissa Ali, Brunet Theresa, Boor Peter, Neveling Kornelia, Hoischen Alexander, Hildebrandt Barbara, Graf Elisabeth, Lu Linchao, Jin Weidong, Schaper Joerg, Omer Jamal A, Demaret Tanguy, Fleischer Nicole, Schindler Detlev, Krawitz Peter, Mayatepek Ertan, Wieczorek Dagmar, Wang Lisa L, Antonin Wolfram, Jachimowicz Ron D, von Felbert Verena, Distelmaier Felix

Abstract excerpt

PURPOSE: Rothmund-Thomson syndrome (RTS) is characterized by poikiloderma, sparse hair, small stature, skeletal defects, cancer, and cataracts, resembling features of premature aging. RECQL4 and ANAPC1 are the 2 known disease genes associated with RTS in >70% of cases. We describe RTS-like features in 5 individuals with biallelic variants in CRIPT (OMIM 615789). METHODS: Two newly identified and 4 published...

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PMID: 37013901
DOI: 10.1016/j.gim.2023.100836

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