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Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature.
Am J Med Genet A. 2019 07; 179(7):1390-1394.AJ

Abstract

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

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Authors+Show Affiliations

Ghesh L
Service de Génétique Médicale, CHU Nantes, Nantes, France.
Vincent M
Service de Génétique Médicale, CHU Nantes, Nantes, France.
Delemazure AS
Service de radiologie, CHU Nantes, Nantes, France.
Boyer J
Service d'ORL, CHU Nantes, Nantes, France.
Corre P
Service de chirurgie maxillo-faciale et stomatologie, CHU Nantes, Nantes, France.
Perez F
Service d'odontologie conservatrice et pédiatrique, CHU Nantes, Nantes, France.
Geneviève D
Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine Montpellier-Nîmes, Université Montpellier 1, Montpellier, France.
Laplanche JL
Département de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, Paris, France.
Collet C
Département de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, Paris, France.
Isidor B
Service de Génétique Médicale, CHU Nantes, Nantes, France.

MeSH

Child, PreschoolDNA-Directed RNA PolymerasesFemaleGenes, RecessiveHumansMagnetic Resonance ImagingMandibulofacial DysostosisMutation

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

30957429

Citation

Ghesh, Leila, et al. "Autosomal Recessive Treacher Collins Syndrome Due to POLR1C Mutations: Report of a New Family and Review of the Literature." American Journal of Medical Genetics. Part A, vol. 179, no. 7, 2019, pp. 1390-1394.
Ghesh L, Vincent M, Delemazure AS, et al. Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature. Am J Med Genet A. 2019;179(7):1390-1394.
Ghesh, L., Vincent, M., Delemazure, A. S., Boyer, J., Corre, P., Perez, F., Geneviève, D., Laplanche, J. L., Collet, C., & Isidor, B. (2019). Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature. American Journal of Medical Genetics. Part A, 179(7), 1390-1394. https://doi.org/10.1002/ajmg.a.61147
Ghesh L, et al. Autosomal Recessive Treacher Collins Syndrome Due to POLR1C Mutations: Report of a New Family and Review of the Literature. Am J Med Genet A. 2019;179(7):1390-1394. PubMed PMID: 30957429.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature. AU - Ghesh,Leila, AU - Vincent,Marie, AU - Delemazure,Anne-Sophie, AU - Boyer,Julie, AU - Corre,Pierre, AU - Perez,Fabienne, AU - Geneviève,David, AU - Laplanche,Jean-Louis, AU - Collet,Corinne, AU - Isidor,Bertrand, Y1 - 2019/04/08/ PY - 2018/10/18/received PY - 2019/03/01/revised PY - 2019/03/03/accepted PY - 2019/4/9/pubmed PY - 2020/7/9/medline PY - 2019/4/9/entrez KW - POLR1C KW - Treacher Collins syndrome KW - autosomal recessive SP - 1390 EP - 1394 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 179 IS - 7 N2 - Treacher Collins syndrome (TCS) is a frequent cause of mandibulofacial dysostosis. To date, TCS-causing mutations in three genes, namely TCOF1, POLR1D, and POLR1C have been identified. TCS is usually inherited in an autosomal dominant manner, with a high clinical variability and no phenotype-genotype correlation. Up-to now, five families have been reported with an autosomal recessive mode of inheritance due to mutations in POLR1D or POLR1C. We report here a new family with two sisters affected by mild TCS carrying compound POLR1C heterozygous mutations, and review the literature on mild forms of TCS, autosomal recessive inheritance in this syndrome and POLR1C mutations. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/30957429/Autosomal_recessive_Treacher_Collins_syndrome_due_to_POLR1C_mutations:_Report_of_a_new_family_and_review_of_the_literature_ L2 - https://doi.org/10.1002/ajmg.a.61147 DB - PRIME DP - Unbound Medicine ER -