Generic selectors
Exact matches only
Search in title
Search in content
Post Type Selectors
Filter by Categories
15th National Conference of the IAOMFP, Chennai, 2006
Abstracts from current literature
Acne in India: Guidelines for management - IAA Consensus Document
Art & Psychiatry
Association Activities
Association Notes
Award Article
Book Review
Brief Report
Case Analysis
Case Letter
Case Letters
Case Notes
Case Report
Case Reports
Clinical and Laboratory Investigations
Clinical Article
Clinical Studies
Clinical Study
Conference Oration
Conference Summary
Continuing Medical Education
Cosmetic Dermatology
Current Best Evidence
Current Issue
Current View
Derma Quest
Dermato Surgery
Dermatosurgery Specials
Dispensing Pearl
Do you know?
Drug Dialogues
Editor Speaks
Editorial Remarks
Editorial Report
Editorial Report - 2007
Editorial report for 2004-2005
Fourth All India Conference Programme
From Our Book Shelf
From the Desk of Chief Editor
Get Set for Net
Get set for the net
Guest Article
Guest Editorial
How I Manage?
IADVL Announcement
IADVL Announcements
IJDVL Awards
IJDVL Awards 2018
IJDVL Awards 2019
IJDVL Awards 2020
IJDVL International Awards 2018
Images in Clinical Practice
In Memorium
Inaugural Address
Knowledge From World Contemporaries
Leprosy Section
Letter in Response to Previous Publication
Letter to Editor
Letter to the Editor
Letter to the Editor - Case Letter
Letter to the Editor - Letter in Response to Published Article
Letter to the Editor - Observation Letter
Letter to the Editor - Study Letter
Letter to the Editor - Therapy Letter
Letter to the Editor: Articles in Response to Previously Published Articles
Letters in Response to Previous Publication
Letters to the Editor
Letters to the Editor - Letter in Response to Previously Published Articles
Letters to the Editor: Case Letters
Letters to the Editor: Letters in Response to Previously Published Articles
Medicolegal Window
Miscellaneous Letter
Net Case
Net case report
Net Image
Net Letter
Net Quiz
Net Study
New Preparations
News & Views
Observation Letter
Observation Letters
Original Article
Original Contributions
Pattern of Skin Diseases
Pediatric Dermatology
Pediatric Rounds
Presedential Address
Presidential Address
Presidents Remarks
Report of chief editor
Report of Hon : Treasurer IADVL
Report of Hon. General Secretary IADVL
Research Methdology
Research Methodology
Resident page
Resident's Page
Resident’s Page
Residents' Corner
Residents' Corner
Residents' Page
Review Article
Review Articles
Revision Corner
Self Assessment Programme
Seminar: Chronic Arsenicosis in India
Seminar: HIV Infection
Short Communication
Short Communications
Short Report
Special Article
Specialty Interface
Study Letter
Study Letters
Symposium - Contact Dermatitis
Symposium - Lasers
Symposium - Pediatric Dermatoses
Symposium - Psoriasis
Symposium - Vesicobullous Disorders
Symposium Aesthetic Surgery
Symposium Dermatopathology
Symposium-Hair Disorders
Symposium-Nails Part I
Symposium-Nails-Part II
Systematic Review and Meta-Analysis
Systematic Reviews and Meta-analyses
Systematic Reviews and Meta-analysis
Therapeutic Guideline-IADVL
Therapeutic Guidelines
Therapeutic Guidelines - IADVL
Therapy Letter
Therapy Letters
View Point
What’s new in Dermatology
View/Download PDF

Translate this page into:

Net letter
doi: 10.4103/0378-6323.107669

Detection of the STS gene in a family with X-linked recessive ichthyosis

Na Wang1 , Kun An2 , Hong Liu1 , Xi'an Fu1 , Gongqi Yu1 , Yongxiang Yu1 , Hongqing Tian3 , Furen Zhang4
1 Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences; Shandong Provincial Key Lab for Dermatovenereology, Jinan, Shandong Province, China
2 Shandong Academy of Medical Science, Jinan, Shandong Province, China
3 Shandong Provincial Medical Center for Dermatovenereology, Jinan, Shandong Province; Shandong Provincial Hospital for Skin Diseases, Jinan, Shandong Province, China
4 Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences; Shandong Provincial Key Lab for Dermatovenereology, Jinan, Shandong Province; Shandong Provincial Medical Center for Dermatovenereology; Shandong Provincial Hospital for Skin Diseases, Jinan, Shandong Province, China

Correspondence Address:
Furen Zhang
Shandong Provincial Institute of Dermatology and Venereology, Jingshi Road, Jinan, Shandong Province
How to cite this article:
Wang N, An K, Liu H, Fu X, Yu G, Yu Y, Tian H, Zhang F. Detection of the STS gene in a family with X-linked recessive ichthyosis. Indian J Dermatol Venereol Leprol 2013;79:268
Copyright: (C)2013 Indian Journal of Dermatology, Venereology, and Leprology


X-linked recessive ichthyosis (XLRI, OMIM: 308100) is a genetic disorder of keratinization characterized by dark, adhesive, polygonal, and regular scales of skin. Corneal opacity could also be observed in 10-15% of affected individuals. [1] XLRI usually occurred at birth or within 3 months after birth, and affects roughly 1:2000 to 1:6000 males. In 1978, the steroid sulphatase enzyme (STS) deficiency was identified to be responsible for the onset of XLRI. [2] The majority of XLRI patients have complete deletions of the STS gene. Here we performed a mutation analysis of the STS gene in a Chinese XLRI family.

The study protocol was approved by ethical committee of Shandong provincial institute of dermatovenereology. All the family members were recruited with written informed consent. The proband (ǁǀ5) is a 9 year-old boy with generalized dry and grey brown scales, without involvement of the palms, soles and face, and no palmar hyperlinearity, accompanied by severe itch [Figure - 1]a. The symptoms occurred after 1 month of his birth and could get clinical ease during the summer. There was no history of other diseases (without corneal opacity and cryptorchidism) in his family and the same symptoms had also been observed in his two maternal uncles [Figure - 1]b. According to his clinical manifestations and family genetic model, XLRI could be diagnosed.

Figure 1:

DNA samples were isolated from peripheral-blood leukocytes via standard protocol of QIAquick gel extraction kit (QIAGEN, Valencia, CA, USA). Polymerase chain reaction (PCR) was used in this study. STS gene was amplified by PCR with primers described by Margarita Valdes-Flores, et al.,[3] previously. All primer pairs were confirmed to be specific for the STS gene on chromosome X by database queries (using BLAST). The PCR reaction was conducted on a Veriti thermal cycler (Applied Biosystems, Foster City, CA, USA) in a total volume of 25 μL. The PCR products were tested in an agarose gel at 1% concentration. All the STS exons failed to be detected in the three XLRI patients, while clear bands of fragments in three female carriers and 100 healthy controls could be observed [[Figure - 1]c showed a part of results]. Three repeated experiments of all the exons were performed for the confirmation of results.

XLRI is an inborn error of metabolism inherited as an X-linked recessive trait, only seven female cases have been reported to date. There is no noticeable racial or geographic predilection. [1] As the causal gene of XLRI, the deficiency of STS could result in the accumulation of cholesterol sulfate in the membranes of stratum corneum cells, while cholesterol sulfate has been proven to play a role in membrane integrity and normal desquamation within the stratum corneum. [4] In female carriers of XLRI, STS activity decreased, who can have dry skin in winter without other recognizable phenotypes. And it has also been reported that a small number of cases may be the consequence of other genetic alterations of the X chromosome not directly linked to the STS gene, which showed some genetic heterogeneity. [5]

By reviewing the literatures, we found that approximately 80-90% of cases of XLRI were due to the totally absence of STS gene. Only 8 partial mutations and 14 point mutations of STS gene have been reported, most of which located at the 3′ end of the STS gene, approximately 86% (19/22). However, the clinical severity of XLRI is equal to the patients caused by the complete deletion of STS gene, which indicates the importance of the 3′ end of the STS gene. In conclusion, our XLRI family with totally absence of STS gene was investigated by direct PCR. The analysis for STS gene is still the gold standard for diagnosis of XLRI and the identification of molecular basics of the family will increase the understanding of the genetics of the STS gene and be useful for the prenatal consultation of this family.

Hernández-Martín A, González-Sarmiento R, De Unamuno P. X-linked ichthyosis: An update. Br J Dermatol 1999;141:617-27.
[Google Scholar]
Koppe G, Marinkovic-Ilsen A, Rijken Y, De Groot WP, Jöbsis AC. X-linked ichthyosis. A sulphatase deficiency. Arch Dis Child 1978;53:803-6.
[Google Scholar]
Valdes-Flores M, Kofman-Alfaro SH, Vaca AL, Cuevas-Covarrubias SA. Mutation report: A novel partial deletion of exons 2-10 of the STS gene in recessive X-linked ichthyosis. J Invest Dermatol 2000;114:591-3.
[Google Scholar]
Yen PH, Allen E, Marsh B, Mohandas T, Wang N, Taggart RT, et al. Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: Implications for X-Y exchange. Cell 1987;49:443-54.
[Google Scholar]
Robledo R, Melis P, Schillinger E, Casciano I, Balazs I, Rinaldi A, et al. X-linked ichthyosis without STS deficiency: Clinical, genetical, and molecular studies. Am J Med Genet 1995;59:143-8.
[Google Scholar]

Fulltext Views

PDF downloads
Show Sections