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December 5, 2025Prenatal Diagnosis

Fetal Phenotype and Diagnosis of Treacher Collins Syndrome Due to a Novel POLR1D Variant

Fenglin Jia Bo Zhang Yuanyuan Xiao

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Key Points

Diagnosis of Treacher Collins Syndrome involves genetic testing based on a novel POLR1D variant.
Molecular analysis shows the variant correlates with phenotypic expressions observed in affected individuals.
Genetic diagnosis provides essential insights into prevention strategies for congenital disorders like Treacher Collins Syndrome.
Further risk assessment is necessary to understand neurodevelopmental outcomes in patients with this syndromic disorder.

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Implication

Molecular analysis reveals genetic diagnosis in Treacher Collins Syndrome, suggesting further risk assessment strategies.

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Cite This Study

Jia et al. (2025) studied this question.

synapsesocial.com/papers/694022612d562116f28fc851 https://doi.org/10.1002/pd.70035

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1A Novel Pathogenic Variant in POLR1D (c.220dup, p.His74ProfsTer8) Causes Treacher Collins Syndrome Type 2 in a Chinese Patient：A Case Report2025
2Case Report: A novel heterozygous variant of the TCOF1 gene in Treacher Collins syndrome2025
3Prenatally Diagnosed Beare‐Stevenson Cutis Gyrata Syndrome With a Novel <i>FGFR2</i> VariantOriginal Research · 2026
4Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease‐Causing Variants in TCOF1 and POLR1DOriginal Research · 2026
5A Prenatal Case of Focal Dermal Hypoplasia With Split Hand/Foot Malformation, Lack of Characteristic Skin Findings, Renal Agenesis, and Coloboma Due To a Novel <i>PORCN</i> Variant2025

More related papers

Two novel pathogenic variants in the <scp><i>TCOF1</i></scp> found in two Chinese cases of Treacher Collins syndrome2024
Expanding the Prenatal Phenotype of Lethal Congenital Contracture Syndrome 11: Novel Homozygous <i>GLDN</i> Variant in a Family With Recurrent Affected Fetuses2026
Clinical and molecular study of Egyptian patients with Treacher Collins syndrome2023

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