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Formerly Journal of Turgut Ozal Medical Center - ISSN 1300-1744

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Cerebrotendinous xanthomatosis with a novel mutation in CYP27A1 gene in a Turkish patient (p.2200-3)

Cerebrotendinous xanthomatosis with a novel mutation in CYP27A1 gene in a Turkish patient (p.2200-3)

Oguz Dikbas1, Deniz Torun2, Irem Ilgezdi3, Ilker Eyuboglu4, Burcu Unlu5
1Department of Internal Medicine, Faculty of Medicine, Giresun University, Giresun, Turkey
2Department of Medical Genetics, University of Health Sciences, Gulhane Faculty of Medicine, Ankara, Turkey
3Department of Neurology, FAculty of Medicine, Giresun University, Giresun, Turkey
4Department of Radiology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey
5Department of Physical Therapy and Rehabilitation, Fethiye State Hospital, Mugla,Turkey
Copyright © 2020 by authors and Annals of Medical Research Publishing Inc.


Cerebrotendinous xanthomatosis (CTX) is a rare genetic metabolic disorder that inherited in an autosomal recessive trait; characterized by abnormal lipid storage. CTX is characterized by infantile or early childhood onset of chronic diarrhea, tendon xanthomas (especially in the achilles tendon), cataracts, and neurological symptoms such as cognitive impairment, pyramidal, extrapyramidal and cerebellar signs, seizures, peripheral neuropathy that appear in the second or third decades of life. A thirty-nine years old Turkish female patient admitted to the Neurology outpatient clinic with the complaint of increasing dizziness and walking difficulty in recent years. She had an operation for both achilles tendon xanthomas and juvenile cataract. Her neurological symptoms and cranial magnetic resonance imaging (MRI) findings were consistent with cerebrotendinous xanthomatosis. A novel homozygous splicing site mutation (IVS8+2T>C, c.1476+2T>C, NM_000784.3) in CYP27A1 gene was detected. This is the first CTX related mutation reported in the literature. 

Keywords: Cerebrotendinous xanthomatosis (CTX); CYP27A1; cholestenol; novel mutation  


doi: 10.5455/annalsmedres.2020.03.254  



Annals of Medical Research is the scientific official journal of the Inonu University Faculty of Medicine. It is published monthly. The essential aim of the Annals of Medical Research is to publish scientifically high quality clinical and experimental research articles on fields of medicine which can contribute to the literature data. In addition, review articles, case reports, editorials, letters to the editors and manuscripts on publication ethics and medical history, which can contribute to the education and practices of physicians and health sector professionals within the scope of the journal’s target audience and which can increase the level of scientific communication between the authors and readers, are included in the scope of the journal.


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