Nousbeck et al. (2008) reported a consanguineous family of Arab Moslem descent in which 5 brothers had a complex phenotype characterized by alopecia, neurologic defects, and endocrinopathy (ANE syndrome). The patients had hair loss of variable severity, ranging from complete alopecia to near-normal scalp hair with absence of body hair. A scalp skin biopsy showed absence of mature hair follicles, rudimentary infundibula, and epithelial cysts. All patients had moderate to severe mental retardation and progressive motor deterioration during the second decade of life. Extensive endocrinologic studies showed central hypogonadotropic hypogonadism with delayed or absent puberty and central adrenal insufficiency. Brain MRI showed of 1 patient showed a hypoplastic pituitary. Additional features included short stature, microcephaly, gynecomastia, pigmentary anomalies, hypodontia, kyphoscoliosis, ulnar deviation of the hands, and loss of subcutaneous fat.
- Nousbeck, J., Spiegel, R., Ishida-Yamamoto, A., Indelman, M., Shani-Adir, A., Adir, N., Lipkin, E., Bercovici, S., Geiger, D., van Steensel, M. A., Steijlen, P. M., Bergman, R., Bindereif, A., Choder, M., Shalev, S., Sprecher, E.Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis.Am. J. Hum. Genet. 82: 1114-1121, 2008. PMID 18439547