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Article

Clinical and Genetic Characteristics of Splicing Variant in CYP27A1 in an Iranian Family with Cerebrotendinous Xanthomatosis.

Iranian biomedical journal - 1 Mar 2021

Rashvand Zahra, Kahrizi Kimia, Najmabadi Hossein, Najafipour Reza, Omrani Mir Davood

Abstract excerpt

Background: Cerebrotendinous xanthomatosis (CTX) is a rare congenital lipid-storage disorder, leading to a progressive multisystem disease. CTX with autosomal recessive inheritance is caused by a defect in the CYP27A1 gene. Chronic diarrhea, tendon xanthomas, neurologic impairment, and bilateral cataracts are common symptoms of the disease. Methods: Three affected siblings with an initial diagnosis of...

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Identifiers

PMID: 33400472
DOI: 10.29252/ibj.25.2.132
PMCID: PMC7921520

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Source receipt: pubmed, retrieved 7 Sept 2026.

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