Literature DB >> 22018287

2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis.

Di Tian1, Zai-Qiang Zhang.   

Abstract

BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is a rare lipid-storage disease. We investigated the clinic manifestation, histopathology and sterol 27-hydroxylase gene (CYP27A1) in a Chinese family with Cerebrotendinous Xanthomatosis (CTX). CASE
PRESENTATION: A 36-year-old female with typical CTX clinical manifestation had Spindle-shaped lipid crystal clefts in xanthomas and "onion-like demyelination" in sural nerve. The patient was compound heterozygote carrying two deletions in exon 1 (c.73delG) and exon 2 (c.369_375delGTACCCA). The family memebers were carriers.
CONCLUSIONS: A Chinese family with Cerebrotendinous Xanthomatosis had typical clinical manifestation. CYP27A1 mutations were found in the proband and all other family members.

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Year:  2011        PMID： 22018287      PMCID： PMC3226568          DOI： 10.1186/1471-2377-11-130

Source DB:  PubMed          Journal:  BMC Neurol        ISSN： 1471-2377            Impact factor:   2.474


  7 in total

Review 1.  Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene.

Authors:  G N Gallus; M T Dotti; A Federico
Journal:  Neurol Sci       Date:  2006-06       Impact factor: 3.307

2.  Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis.

Authors:  J J Cali; C L Hsieh; U Francke; D W Russell
Journal:  J Biol Chem       Date:  1991-04-25       Impact factor: 5.157

3.  Four novel CYP27A1 mutations in seven Italian patients with CTX.

Authors:  G N Gallus; M T Dotti; A Mignarri; A Rufa; P Da Pozzo; E Cardaioli; A Federico
Journal:  Eur J Neurol       Date:  2010-10       Impact factor: 6.089

4.  Identification of a novel missense mutation in the sterol 27-hydroxylase gene in two Japanese patients with cerebrotendinous xanthomatosis.

Authors:  Tsuyoshi Nozue; Toshinori Higashikata; Akihiro Inazu; Masa-aki Kawashiri; Atsushi Nohara; Junji Kobayashi; Junji Koizumi; Masakazu Yamagishi; Hiroshi Mabuchi
Journal:  Intern Med       Date:  2010-06-15       Impact factor: 1.271

5.  A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis.

Authors:  Hauke Schneider; Alexandra Lingesleben; Hans-Peter Vogel; Rita Garuti; Sebastiano Calandra
Journal:  Orphanet J Rare Dis       Date:  2010-10-06       Impact factor: 4.123

6.  Unique patient with cerebrotendinous xanthomatosis. Evidence for presence of a defect in a gene that is not identical to sterol 27-hydroxylase.

Authors:  M Hansson; M Olin; C-H Floren; S von Bahr; F van't Hooft; S Meaney; G Eggertsen; I Björkhem
Journal:  J Intern Med       Date:  2007-05       Impact factor: 8.989

Review 7.  Cholestanol metabolism, molecular pathology, and nutritional implications.

Authors:  Yousuke Seyama
Journal:  J Med Food       Date:  2003       Impact factor: 2.786
  7 in total
  5 in total

1.  Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families.

Authors:  Chen Chen; Yue Zhang; Hui Wu; Yi-Min Sun; Ye-Hua Cai; Jian-Jun Wu; Jian Wang; Ling-Yun Gong; Zheng-Tong Ding
Journal:  Metab Brain Dis       Date:  2017-06-17       Impact factor: 3.584

2.  Cerebrotendinous Xanthomatosis: Report of two cases and a novel genetic mutation in an Indian patient.

Authors:  Bhupender K Bajaj; Anand Singh; Kuljeet S Anand; Jyoti Garg
Journal:  J Neurosci Rural Pract       Date:  2013-08

Review 3.  Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management.

Authors:  Shuke Nie; Guiqin Chen; Xuebing Cao; Yunjian Zhang
Journal:  Orphanet J Rare Dis       Date:  2014-11-26       Impact factor: 4.123

4.  Cerebrotendinous xanthomatosis with peripheral neuropathy: a clinical and neurophysiological study in Chinese population.

Authors:  Shu Zhang; Wei Li; Rui Zheng; Bing Zhao; Yongqing Zhang; Dandan Zhao; Cuiping Zhao; Chuanzhu Yan; Yuying Zhao
Journal:  Ann Transl Med       Date:  2020-11

5.  Cerebrotendinous Xanthomatosis: Molecular Pathogenesis, Clinical Spectrum, Diagnosis, and Disease-Modifying Treatments.

Authors:  Shingo Koyama; Yoshiki Sekijima; Masatsune Ogura; Mika Hori; Kota Matsuki; Takashi Miida; Mariko Harada-Shiba
Journal:  J Atheroscler Thromb       Date:  2021-05-08       Impact factor: 4.928
  5 in total

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