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A patient with TPCN2-related hypopigmentation and ocular phenotype

Cécile Courdier1, Vincent Michaud1,2, Modibo Diallo2

  • 1Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.

European Journal of Human Genetics : EJHG
|January 14, 2025
PubMed

Insights

A novel TPCN2 gene variant causes generalized hypopigmentation and albinism-like ocular features. This finding expands the known phenotype associated with TPCN2 variants.

Area of Science:

  • Genetics
  • Cell Biology
  • Ophthalmology

Background:

  • Pigmentation involves numerous genes controlling pigment cell development and melanin synthesis.
  • The Two Pore Channel 2 (TPC2) regulates melanosomal pH, inhibiting pigmentation.
  • A previously reported patient with a de novo TPCN2 variant (c.628C>T;p.Arg210Cys) showed generalized hypopigmentation without ocular issues.

Purpose of the Study:

  • To report a patient with the same de novo TPCN2 variant.
  • To characterize the extended phenotype associated with this TPCN2 variant.
  • To investigate the potential role of TPCN2 in albinism.

Main Methods:

  • Clinical case report.
  • Genetic variant analysis (de novo heterozygous TPCN2 variant c.628C>T;p.Arg210Cys).
  • Ophthalmologic examinations.

Main Results:

  • The patient presented with generalized hypopigmentation and albinism-related ocular findings: retinal hypopigmentation, foveal hypoplasia, photophobia, hypermetropia, and astigmatism.
  • Additional symptoms included skin fragility and episodes of fever, diarrhea, and fatigue.
  • The findings suggest a broader clinical spectrum for TPCN2 variants.

Conclusions:

  • The TPCN2 variant c.628C>T;p.Arg210Cys leads to a more complex phenotype than previously described.
  • TPCN2 variants should be investigated in patients with albinism and related disorders.
  • TPCN2 may be considered a potential albinism gene.

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