Article
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2020
Cuvertino Sara, Hartill Verity, Colyer Alice, Garner Terence, Nair Nisha, Al-Gazali Lihadh, Canham Natalie, Faundes Victor, Flinter Frances, Hertecant Jozef, Holder-Espinasse Muriel, Jackson Brian, Lynch Sally Ann, Nadat Fatima, Narasimhan Vagheesh M, Peckham Michelle, Sellers Robert, Seri Marco, Montanari Francesca, Southgate Laura, Squeo Gabriella Maria, Trembath Richard, van Heel David, Venuto Santina, Weisberg Daniel, Stals Karen, Ellard Sian, Barton Anne, Kimber Susan J, Sheridan Eamonn, Merla Giuseppe, Stevens Adam, Johnson Colin A, Banka Siddharth
Abstract excerpt
PURPOSE: To investigate if specific exon 38 or 39 KMT2D missense variants (MVs) cause a condition distinct from Kabuki syndrome type 1 (KS1). METHODS: Multiple individuals, with MVs in exons 38 or 39 of KMT2D that encode a highly conserved region of 54 amino acids flanked by Val3527 and Lys3583, were identified and phenotyped. Functional tests were performed to study their pathogenicity and understand the disease...
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