A novel <scp>IGSF</scp>1 mutation in a large Irish kindred highlights the need for familial screening in the <scp>IGSF</scp>1 deficiency syndrome

Abstract

As observed with other IGSF1 mutations, p.L773P results in variably penetrant IGSF1 deficiency syndrome. Our observations emphasize the need for multi-generation genetic ascertainment in affected families, especially where TSH-based CH screening programmes may fail to detect CeCH at birth.