Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy

Abstract

In this case series, David et al. describe clinical features of 4 patients in 2 unrelated consanguineous families with TTC26 ciliopathy due to a homozygous c.695A>G p.Asn232Ser mutation. Three of the patients had MRI findings consistent with pituitary stalk interruption syndrome (PSIS), a congenital anomaly of the pituitary gland. Additionally, 2 of 3 patients with PSIS had multiple anterior pituitary hormone deficiency. Three patients also had ocular manifestations, including isolated bilateral esotropia, unilateral retinal coloboma, microphthalmia, corneal dystrophy, and optic disc edema, suggesting that ocular abnormalities are a part of the phenotype associated with defective TTC26.