Article
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.
European journal of medical genetics - 1 Jan 2023
Delanne Julian, Lecat Magaly, Blackburn Patrick R, Klee Eric W, Stumpel Constance T R M, Stegmann Sander, Stevens Servi J C, Nava Caroline, Heron Delphine, Keren Boris, Mahida Sonal, Naidu Sakkubai, Babovic-Vuksanovic Dusica, Herkert Johanna C, Torring Pernille M, Kibæk Maria, De Bie Isabelle, Pfundt Rolph, Hendriks Yvonne M C, Ousager Lilian Bomme, Bend Renee, Warren Hannah, Skinner Steven A, Lyons Michael J, Pöe Charlotte, Chevarin Martin, Jouan Thibaud, Garde Aurore, Thomas Quentin, Kuentz Paul, Tisserant Emilie, Duffourd Yannis, Philippe Christophe, Faivre Laurence, Thauvin-Robinet Christel
Abstract excerpt
BACKGROUND: Since the first description of a BRWD3-associated nonsydromic intellectual disability (ID) disorder in 2007, 21 additional families have been reported in the literature. METHODS: Using exome sequencing (ES) and international data sharing, we identified 14 additional unrelated individuals with pathogenic BRWD3 variants (12 males and 2 females, including one with skewed X-inactivation). We reviewed the...
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