A novel mutation in the CYP27A1 gene in a family with cerebrotendinous xanthomatosis

Abstract

Purpose of the study

Cerebrotendinous xanthomatosis (CTX) is an inherited disorder associated with abnormal deposition of cholestenol in the brain and other tissues. Here we report a Chinese family with two affected members of CTX.

Materials and Methods

Clinical data were collected. Gene analysis, MRI, neuropsychological assessments, and the biopsy of right Achilles tendon xanthoma were carried out.

Results

The two cases had similar symptoms for cataracts, chronic diarrhea, progressive cognitive impairment and a disturbance of gait, and were identified with the same compound heterozygous mutations, c.435G>T in exon 2 and c.562C>T in exon 3.

Conclusions

Cerebrotendinous xanthomatosis (CTX) is an inherited disorder associated with abnormal deposition of cholestenol in the brain and other tissues. Although CTX is a treatable disease, the time of beginning treatment is crucial for therapeutic effect. Unfortunately, it usually takes years even decades from initial symptoms to the diagnosis of CTX. The screening for 27-hydroxylase (CYP27A1) gene even before the occurrence of tendon xanthoma is important for early diagnosis.

Keywords:

• Cerebrotendinous xanthomatosis
• 27-hydroxylase gene
• mutation
• juvenile cataracts
• chronic diarrhea

Disclosure statement

No potential conflict of interest was reported by the author(s).

Additional information

Funding

This study was supported by the Beijing Municipal Administration of Hospital’s Youth Programme under Grant QML20170801; the National Natural Science Foundation of China under Grant 81701044; the National Key R&D Program of China under Grant 2017YFC1310102; the National Natural Science Foundation of China under Grant 81671040.