X-linked ichthyosis

Definition:

X-linked ichthyosis (XLI) is caused by deficient activity of steroid sulfatase. It is often associated with further clinical problems, including cryptorchidism or social communication deficits, such as attention deficit hyperactivity syndrome or autism.

References:

[1]. E S Alperin, et al. Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein. J Biol Chem. 1997 Aug 15;272(33):20756-63. [Content Brief]

[2]. L Kent, et al. X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits. J Med Genet. 2008 Aug;45(8):519-24. [Content Brief]

[3]. M J Reed, et al. Steroid sulfatase: molecular biology, regulation, and inhibition. Endocr Rev. 2005 Apr;26(2):171-202. [Content Brief]

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