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Article

A novel pathogenic variant in POLR1D (c.220dup, p.His74ProfsTer8) causes Treacher Collins syndrome type 2 in a Chinese patient: a case report.

BMC pediatrics - 27 Dec 2025

Zhu Hui, Du Min, Zhu Shuyao, Huang Yu, Zeng Lan, Kuai Yu, Xiong Fu, Pang Ying

Abstract excerpt

INTRODUCTION: Treacher Collins syndrome type 2 (TCS2; OMIM# 613717) is a rare genetic disorder of craniofacial development caused by pathogenic variants in the POLR1D gene. The characteristic clinical features include downward-slanting palpebral fissures, micrognathia, hypoplastic zygomatic arches, lower eyelid coloboma, and malformations of the external and middle ears. CASE PRESENTATION: In this study, we...

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Identifiers

PMID: 41455926
DOI: 10.1186/s12887-025-06469-9
PMCID: PMC12853992

Genes

POLR1D

Variants

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