Related Experiment Video
Updated: Jan 23, 2026

A Patient-Derived Xenograft Model for Venous Malformation
Published on: June 15, 2020
Hypothalamic malformations in patients with X-linked deafness and incomplete partition type 3
Ata Siddiqui1, Alessandra D'Amico2, Giovanna Stefania Colafati3
1Department of Neuroradiology, King's College Hospital, London, UK.
Abstract:
Patients with X-linked deafness carry mutations in the POU3F4 gene and have pathognomonic inner ear malformations characterised by symmetrical incomplete partition type 3 (absent modiolus and lamina spiralis but preserved interscalar septum in a normal-sized cochlea) and large internal auditory meatus (IAM) with an increased risk of gusher during stapes surgery. We describe a range of fairly characteristic malformations in the hypothalamus of some patients with this rare condition, ranging from subtle asymmetric appearance and thickening of the tuber cinereum to more marked hypothalamic enlargement. We discuss the role of POU3F4 in the normal development of both the inner ear and hypothalamus and the proposed pathophysiology of incomplete partition type 3.
Related Concept Videos
Hypothalamic-Pituitary Axis
Incomplete Dominance
Covalently Linked Protein Regulators
These groups modify specific amino acids in a protein....
Extraction: Partition and Distribution Coefficients
For extracting a solute from an aqueous phase into an...
X-linked Traits
Sex-linked Disorders

