After exome sequencing in 20 patients (trio analysis) with isolated pituitary stalk interruption syndrome (PSIS), the BMP4 variant p.Ala334Asp was identified together with a SIX6 gene variant p.Glu129Lys (and DCHS1 gene variants) in a patient who presented with growth retardation, pituitary hormone deficiencies and MRI findings of ectopic posterior pituitary, small stalk and anterior pituitary [11]. Here, BMP4 is linked to pituitary stalk interruption syndrome.