Further delineation of dosage‐sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance

• DOI: 10.1111/cge.14303
• Publication Date: 2023-01-23T09:38:32Z
• Authors: Melanie Leffler; Louise Christie; Anna Hackett; Bruce Bennetts; Himanshu Goel; David J. Amor; Greg B. Peters; Michael Field; Tracy Dudding‐Byth
• Keywords: Xq28; Penetrance

The low copy tandem repeat area at Xq28 is prone to recurrent number gains, including the K/L mediated duplications of 300 kb size (herein described as duplication syndrome). We describe five families, nine males with duplications, some regions greater variation (CNV). summarise findings in 25 affected reported date. Within were variably by seizures, intellectual disability, and neurological features; however, one male a familial has normal intelligence, suggesting that this CNV not 100% penetrant. Including our 13 carrier females have been identified, presenting phenotypically normal. Three mild learning difficulties, all them had containing least four copies. Delineation spectrum syndrome highlights GDI1 most likely candidate gene contributing phenotype. For patients identified CNVs region, high-resolution microarray required define gains provide families accurate information.