Dataset Information

Hereditary POIKTMP caused by FAM111B variants

ABSTRACT: Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is a rare genetic multisystemic fibrosing disorderdisease caused by heterozygous mutations in the FAM111B gene. To date, its molecular pathogenesis remains poorly defined. The FAM111B gene encodes a trypsin-like serine protease, primarily studied in the context of cancer. Intriguingly, the fact that germinal FAM111B variants do not consistently result in tumoral disorders suggests a broader functional scope for this protein that extends beyond its role in cell proliferation. This study comprehensively explored the global cellular landscape of POIKTMP patient cells carrying FAM111B missense variants using a multi-omics strategiy.

INSTRUMENT(S):

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Fibroblast

SUBMITTER: E Com

LAB HEAD: Sandra Mercier

PROVIDER: PXD046398 | Pride | 2025-09-08

REPOSITORIES: Pride

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Publications

Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up.

Vignard Virginie V Maillasson Mike M Bigot Anne A Küry Sébastien S Besnard Thomas T Broly Martin M Guého Aurélie A Com Emmanuelle E Davis Erica E Deb Wallid W Florenceau Laëtitia L Sobriel Karen K Ménard Grégoire G Gardie Betty B Goldenberg Alice A Porrmann Joseph J Richardson Randal R Ruffier Léa L Hadj-Rabia Smail S Bézieau Stéphane S Barbarot Sébastien S Ebstein Frédéric F Mercier Sandra S

EBioMedicine 20250820

<h4>Background</h4>Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is a rare genetic multisystemic fibrosing disorder caused by FAM111B gene mutations. Given its rarity, the molecular underpinnings of POIKTMP remain elusive. FAM111B, a trypsin-like serine protease, initially studied in cancer, exhibits germline variants not consistently linked to tumours, suggesting broader functions beyond cell proliferation.<h4>Methods</h4>In this study, ...[more]

PMID: 40840166

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