Expanding the phenotypic spectrum of MECOM-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertension.

doi:10.1136/jmg-2025-111027

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Article

Expanding the phenotypic spectrum of MECOM-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertension.

Journal of medical genetics - 20 Mar 2026

Welch Carrie L, McEntagart Meriel, Moledina Shahin, Morgan Cara, Swietlik Emilia, Hou Chao, Qiao Lu, Callejo Emily, Craib Savanna, Smedley Damian, Bijlsma Emilia K, Bouvagnet Patrice, Cortes-Santiago Nahir, Dagan Tamir, Eason Jacqueline, Flinter Frances, Joshi Aakash, Mortreux Jeremie, Ruiz Fadel E, Shears Deborah, Azevedo Soares Celia, Varghese Nidhy P, Chung Wendy K

Abstract excerpt

BACKGROUND: MECOM encodes a developmental and haematopoietic transcription factor associated with a rare early-onset syndrome including bone marrow failure, skeletal and other congenital anomalies. Heterozygous de novo variants are the primary cause. We previously identified MECOM as a candidate gene for paediatric pulmonary arterial hypertension (PAH) using trio exome sequencing. METHODS: To test the role of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41617498
DOI: 10.1136/jmg-2025-111027

Genes

MECOM
PAH
KDR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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