2. Academic Validation
  3. Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis

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. doi: 10.1016/j.ajhg.2008.03.014.
Janna Nousbeck 1,  Ronen Spiegel,  Akemi Ishida-Yamamoto,  Margarita Indelman,  Ayelet Shani-Adir,  Noam Adir,  Ehud Lipkin,  Sivan Bercovici,  Dan Geiger,  Maurice A van Steensel,  Peter M Steijlen,  Reuven Bergman,  Albrecht Bindereif,  Mordechai Choder,  Stavit Shalev,  Eli Sprecher
Affiliations

Affiliation

  • 1 Laboratory of Molecular Dermatology, Department of Dermatology, Rambam Health Care Campus, 31096 Haifa, Israel.
PMID: 18439547 DOI: 10.1016/j.ajhg.2008.03.014
Abstract

Single-gene disorders offer unique opportunities to shed light upon fundamental physiological processes in humans. We investigated an autosomal-recessive phenotype characterized by alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome). By using homozygosity mapping and candidate-gene analysis, we identified a loss-of-function mutation in RBM28, encoding a nucleolar protein. RBM28 yeast ortholog, Nop4p, was previously found to regulate ribosome biogenesis. Accordingly, electron microscopy revealed marked ribosome depletion and structural abnormalities of the rough endoplasmic reticulum in patient cells, ascribing ANE syndrome to the restricted group of inherited disorders associated with ribosomal dysfunction.

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