Autosomal recessive Treacher Collins syndrome due to \textitPOLR1C mutations: Report of a new family and review of the literature - Université de Montpellier Accéder directement au contenu
Article Dans Une Revue American Journal of Medical Genetics Part A Année : 2019

Autosomal recessive Treacher Collins syndrome due to \textitPOLR1C mutations: Report of a new family and review of the literature

Résumé

Treacher Collins syndrome (TCS) is a frequent cause of mandibulofacial dysostosis.To date, TCS-causing mutations in three genes, namely TCOF1, POLR1D, and POLR1Chave been identified. TCS is usually inherited in an autosomal dominant manner, witha high clinical variability and no phenotype–genotype correlation. Up-to now, fivefamilies have been reported with an autosomal recessive mode of inheritance due tomutations in POLR1D or POLR1C. We report here a new family with two sistersaffected by mild TCS carrying compound POLR1C heterozygous mutations, andreview the literature on mild forms of TCS, autosomal recessive inheritance in thissyndrome and POLR1C mutations.
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Dates et versions

hal-02927510 , version 1 (01-09-2020)

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Leila Ghesh, Marie Vincent, Anne-Sophie Delemazure, Julie Boyer, Pierre Corre, et al.. Autosomal recessive Treacher Collins syndrome due to \textitPOLR1C mutations: Report of a new family and review of the literature. American Journal of Medical Genetics Part A, 2019, pp.ajmg.a.61147. ⟨10.1002/ajmg.a.61147⟩. ⟨hal-02927510⟩
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