IMAGE-I syndrome

Definition:

IMAGE-I syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency. It has been reported that mutations in POLE cause IMAGE-I. POLE encodes the catalytic subunit of DNA polymerase epsilon.

References:

[1]. Clare V Logan, et al. DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency. Am J Hum Genet. 2018 Dec 6;103(6):1038-1044. [Content Brief]

[2]. Tiong Yang Tan, et al. Two sisters with IMAGe syndrome: cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review. Am J Med Genet A. 2006 Aug 15;140(16):1778-84. [Content Brief]

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