Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A patient with TPCN2-related hypopigmentation and ocular phenotype.

European journal of human genetics : EJHG - 1 Mar 2025

Courdier Cécile, Michaud Vincent, Diallo Modibo, Plaisant Claudio, Lasseaux Eulalie, Helot Isabelle, Philippe Elodie, Vrielynck Els, Willems Marjolaine, Arveiler Benoit

Abstract excerpt

Pigmentation is orchestrated by hundreds of genes involved in cellular functions going from early developmental fate of pigment cells to melanin synthesis. The Two Pore Channel 2 (TPC2) a Ca2+ and Na+ channel acidifies melanosomal pH and thus inhibits pigmentation. A young patient was recently reported with generalized hypopigmentation but uneventful ocular examination, caused by the de novo heterozygous TPCN2...

Topics

Join the communities discussing this publication.

Calcium Channels
Hypopigmentation
Phenotype

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 39809949
DOI: 10.1038/s41431-024-01779-5
PMCID: PMC11894100

Genes

TPCN2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A patient with TPCN2-related hypopigmentation and ocular phenotype.PMID 39809949Read ↗

Albinism in Europe.Semantic proximity Read ↗

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations.Semantic proximity Read ↗

Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease.Semantic proximity Read ↗

Clinical Manifestations and Genetic Spectrum of Oculocutaneous Albinism Type 2 in Chinese Patients.Semantic proximity Read ↗

[Hereditary pigmentary disorders].Semantic proximity Read ↗

The biology of hyperpigmentation syndromesSemantic proximity Read ↗

The retinal pigmentation pathway in human albinism: Not so black and white.Semantic proximity Read ↗

Clinical and genetic variability in children with partial albinism.Semantic proximity Read ↗

Genotypic and phenotypic analysis of an oculocutaneous albinism patient: a case report and review of the literature.Semantic proximity Read ↗

TYR mutation in a Chinese population with oculocutaneous albinism: Molecular characteristics and ophthalmic manifestations.Semantic proximity Read ↗

Concurrent PANK2 and OCA2 variants in a patient with retinal dystrophy, hypopigmented irides and neurodegeneration.Semantic proximity Read ↗

The etiology and molecular genetics of human pigmentation disordersSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.