In addition, whole exome sequencing approach also solved the genetics of some syndromic forms of PAI including IMAGe syndrome (<i>CDKN1C</i>), Irish traveler syndrome (<i>MCM4</i>), MIRAGE syndrome (<i>SAMD9</i>); and most recently a syndrome combining FGD with steroid-resistant nephrotic syndrome and ichthyosis caused by mutations in the gene for sphingosine-1-phosphate lyase 1 (<i>SGPL1</i>).
In 7 families with SRNS and facultative ichthyosis, adrenal insufficiency, immunodeficiency, and neurological defects, we identified 9 different recessive mutations in SGPL1, which encodes sphingosine-1-phosphate (S1P) lyase.