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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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Overlapping Xq13.3 duplications define an X-linked hypotrichosis simplex and implicate TAB3 dosage sensitivity.

Qiaoyu Cao1, Anqi Zhao1, Jianbo Wang2

  • 1Department of Dermatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China.

American Journal of Human Genetics
|July 9, 2026
PubMed
Summary

Researchers identified a new form of X-linked hypotrichosis simplex (XLHS) caused by duplications in the TAB3 gene. This genetic change leads to hair loss by disrupting NF-κB signaling, with potential therapeutic benefits from anti-inflammatory treatments.

Keywords:
TAB3X-linked hypotrichosis simplexanti-inflammatory therapycopy-number variantstructural varianttandem duplication

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Area of Science:

  • Genetics
  • Dermatology
  • Molecular Biology

Background:

  • Hereditary hypotrichosis is typically autosomal, but X-linked forms are less understood.
  • Previous research has primarily linked hair loss disorders to autosomal inheritance patterns.

Purpose of the Study:

  • To identify the genetic cause of a novel X-linked hypotrichosis simplex (XLHS) observed in three families.
  • To investigate the molecular mechanisms underlying XLHS and explore potential therapeutic targets.

Main Methods:

  • Genomic analysis to identify duplications in affected individuals.
  • Gene expression and protein abundance analysis in scalp tissue.
  • Development of mouse and cell models for functional studies of candidate genes.
  • Investigation of signaling pathways, including TAK1-dependent NF-κB signaling.

Main Results:

  • Identified partially overlapping duplications at Xq13.3 in affected individuals, encompassing TAB3, FTHL17, and DMD.
  • TAB3 showed increased accumulation in scalp tissue of affected individuals, implicating it as the dosage-sensitive candidate gene.
  • TAB3 overexpression impaired TAK1-dependent canonical NF-κB signaling and recapitulated hypotrichosis in mice, with associated pathological changes.
  • Anti-inflammatory treatment improved hair density in mice, suggesting potential therapeutic avenues.

Conclusions:

  • Defined a previously unrecognized X-linked hypotrichosis simplex (XLHS).
  • Established increased TAB3 gene dosage as the genetic driver of XLHS.
  • Implicated dysregulated TAK1-NF-κB signaling as a pathogenic mechanism and suggested anti-inflammatory therapy as a potential treatment.