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Abstract

October - December 2021 | Vol. 14 | Issue 4 | 02-04
Limitations of Whole-Exome Sequencing: Report of a Child with X-Linked Adrenoleukodystrophy
Veronica Arora, Samarth Kulshrestha, Sunita Bijarnia-Mahay
Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi
Address for Correspondence Email: bijarnia@gmail.com
 
Abstract
X-linked adrenoleukodystrophy is the most common disorder of peroxisomal beta-oxidation of very long chain fatty acids. It presents with three distinct phenotypes, including the childhood cerebral form, adrenomyeloneuropathy and Addison’s disease. It is an X-linked disorder caused by pathogenic variants in the ABCD1 gene. Our case describes the diagnostic odyssey in a six-year-old child with neuroregression in the form of progressive loss of hearing and vision, and neuroimaging features highly suggestive of adrenoleukodystrophy. This brings out the inadequacies of the apparently impregnable whole exome sequencing, due to partial coverage of the ABCD1 gene. We also enunciate the importance of clinical acumen and the need for collaboration with experts in the field in order to reach a quicker and more accurate diagnosis, especially in treatable disorders like these.
 
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