Alopecia neurologic defects and endocrinopathy syndrome

Definition:

Alopecia neurological defects and endocrinopathy syndrome (ANE syndrome) is an autosomal recessive disease that is clinically heterogeneous. ANE syndrome patients display multiple signs including a varied amount of hair loss, mental retardation, progressive loss of motor ability beginning in the second decade of life, hypogonadism, central adrenal insufficiency, short stature, microcephaly, and several other skeletal and skin abnormalities. The syndrome is caused by decreased expression of the nucleolar protein RBM28, known to be required for biogenesis of the 60S subunit of the ribosome.

References:

[1]. Emily F Freed, et al. When ribosomes go bad: diseases of ribosome biogenesis. Mol Biosyst. 2010 Mar;6(3):481-93. [Content Brief]

[2]. Janna Nousbeck, et al. Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis. Am J Hum Genet. 2008 May;82(5):1114-21. [Content Brief]

[3]. Ronen Spiegel, et al. ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency. Eur J Endocrinol. 2010 Jun;162(6):1021-5. [Content Brief]

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