FaCD Online Syndrome Fact Sheet

Last updated: 21 Dec 2010

Name: Ataxia-Telangiectasia-Like Disorder

Synonym: ATLD

Mode of Inheritance: AR

Genes

MRE11A, mapped to 11q21

Tumor features

lung/bronchial cancer

Non-tumor features

cerebellar ataxia
cerebellar atrophy
developmental delay/mental deficiency/mental retardation
increased chromosomal breakage
ionizing radiation sensitivity, increased
short stature

Comment

Ataxia-telangiectasia-like disorder is a rare chromosomal breakage syndrome. Hallmarks are progressive cerebellar degeneration, increased levels of spontaneously occurring chromosomal aberrations, and increased sensitivity to ionizing radiation with the absence of ocular telangiectasia and immunodeficiency. Uchisaka et al[1] reported two brothers with ATLD who were diagnosed with poorly differentiated lung adenocarcinoma with multiple bone metastases at the ages of 15 and 9 years, respectively. They were compound heterozygous for a germline MRE11A muatation.

References

[1] Uchisaka N, Takahashi N, Sato M, Kikuchi A, Mochizuki S, Imai K, Nonoyama S, Ohara O, Watanabe F, Mizutani S, Hanada R, Morio T. Two brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma. J Pediatr.2009 Sep;155(3):435-8.