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Related Concept Videos

X-linked Traits01:19

X-linked Traits

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In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
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Pleiotropy01:33

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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X-Inactivation

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The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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Related Experiment Video

Updated: Jun 18, 2025

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Revisiting X-linked congenital ichthyosis.

Baishun Zhou1, Cancan Liang1, Peiyao Li2

  • 1Department of Pathology, School of Medicine, Hunan Normal University, Changsha, People's Republic of China.

International Journal of Dermatology
|August 1, 2024
PubMed
Summary

X-linked recessive ichthyosis (XLI) is a common genetic skin disorder caused by steroid sulfatase (STS) gene deficiency, leading to skin dryness and scaling. Understanding STS gene variants aids in diagnosing and treating XLI.

Keywords:
STS geneXLIX‐linked recessive ichthyosisdermatopathologydiagnosisgene pathogenic variantsgene therapygenetic skin disorderstreatment

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Area of Science:

  • Genetics
  • Dermatology
  • Biochemistry

Background:

  • X-linked recessive ichthyosis (XLI) is the second most prevalent ichthyosis subtype, affecting males primarily.
  • It presents with generalized skin dryness, scaling, and potential extracutaneous symptoms.
  • XLI is caused by mutations in the steroid sulfatase (STS) gene located on chromosome Xp22.3.

Purpose of the Study:

  • To review the genetic, clinical, and pathological aspects of XLI.
  • To elucidate the pathogenesis of XLI, focusing on STS deficiency and cholesterol sulfate accumulation.
  • To discuss diagnostic approaches, differential diagnoses, and therapeutic strategies for XLI.

Main Methods:

  • Literature review of genetic, clinical, and pathological studies on XLI.
  • Analysis of the role of steroid sulfatase deficiency in epidermal barrier function.
  • Synthesis of current knowledge on diagnosis and treatment options.

Main Results:

  • STS gene deficiency leads to cholesterol sulfate accumulation in the stratum corneum.
  • This accumulation impairs epidermal permeability barrier function and causes scaling.
  • The review consolidates information on XLI's features, pathogenesis, and management.

Conclusions:

  • Understanding STS gene variants is crucial for accurate XLI diagnosis and treatment.
  • Further research may yield novel therapeutic and prenatal diagnostic strategies for XLI.
  • Targeting STS gene function offers potential for improved XLI management.