Coffin-Siris syndrome

Recommended panel testing at Breda Genetics for this condition: Coffin-Siris syndrome (ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCE1, SOX11) The fifth digit syndrome Coffin-Siris syndrome (also known as fifth digit syndrome) is a very rare genetic syndrome. Even though the condition is highly variable, the main hallmarks are abnormalities of the fifth finger, developmental disability […]

Continue reading

Histone-modification disorders

Recommended panel testing at Breda Genetics for this condition: Histone-modification disorders and their differential diagnosis (incl. Wiedemann-Steiner, Kabuki, Coffin-Siris, Nicolaides-Baraitser, and Cornelia de Lange syndromes) (ARID1A, ARID1B, HDAC8, NIPBL, KMT2A, KMT2D, KDM6A, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, RAD21) Summary Histone modification is a epigenetic mechanism by which more than 100 different post-translational modifications may occur at […]

Continue reading