Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

Marie Vincent; David Geneviève; Agnès Ostertag; Sandrine Marlin; Didier Lacombe; Dominique Martin-Coignard; Christine Coubes; Albert David; Stanislas Lyonnet; Catheline Vilain; Anne Dieux-Coeslier; Sylvie Manouvrier; Bertrand Isidor; Marie-Line Jacquemont; Sophie Julia; Valérie Layet; Sophie Naudion; Sylvie Odent; Laurent Pasquier; Sybille Pelras; Nicole Philip; Geneviève Pierquin; Fabienne Prieur; Nisrine Aboussair; Tania Attie-Bitach; Geneviève Baujat; Patricia Blanchet; Catherine Blanchet; Hélène Dollfus; Bérénice Doray; Elise Schaefer; Patrick Edery; Fabienne Giuliano; Alice Goldenberg; Cyril Goizet; Agnès Guichet; Christian Herlin; Laetitia Lambert; Bruno Leheup; Jelena Martinovic; Sandra Mercier; Cyril Mignot; Marie-Laure Moutard; Marie-José Perez; Lucile Pinson; Jacques Puechberty; Marjolaine Willems; Hanitra Randrianaivo; Kateline Szaskon; Annick Toutain; Alain Verloes; Jacqueline Vigneron; Elodie Sanchez; Pierre Sarda; Jean-Louis Laplanche; Corinne Collet

doi:10.1038/gim.2015.29

Journal articles

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

Marie Vincent David Geneviève Agnès Ostertag Sandrine Marlin Didier Lacombe ¹ Dominique Martin-Coignard Christine Coubes Albert David Stanislas Lyonnet ² Catheline Vilain Anne Dieux-Coeslier ³ Sylvie Manouvrier ⁴ Bertrand Isidor ⁵ Marie-Line Jacquemont Sophie Julia ⁶ Valérie Layet ⁷ Sophie Naudion Sylvie Odent ⁸ Laurent Pasquier ⁸ Sybille Pelras Nicole Philip ⁹ Geneviève Pierquin ¹⁰ Fabienne Prieur Nisrine Aboussair Tania Attie-Bitach ^{11, 12} Geneviève Baujat ¹³ Patricia Blanchet ¹⁴ Catherine Blanchet Hélène Dollfus ¹⁵ Bérénice Doray ¹⁶ Elise Schaefer ¹⁶ Patrick Edery ¹⁷ Fabienne Giuliano Alice Goldenberg Cyril Goizet ¹ Agnès Guichet ¹⁸ Christian Herlin Laetitia Lambert ¹⁹ Bruno Leheup ^{20, 21} Jelena Martinovic ²² Sandra Mercier Cyril Mignot ^{23, 24} Marie-Laure Moutard Marie-José Perez Lucile Pinson ²⁵ Jacques Puechberty ²⁶ Marjolaine Willems ^{13, 12} Hanitra Randrianaivo Kateline Szaskon Annick Toutain ²⁷ Alain Verloes ^{28, 29} Jacqueline Vigneron ³⁰ Elodie Sanchez Pierre Sarda ³¹ Jean-Louis Laplanche Corinne Collet

1 Service de génétique médicale

2 INSERM - Institut National de la Santé et de la Recherche Médicale

3 Clinique de Génétique médicale Guy Fontaine [CHRU LIlle]

4 Hôpital Jeanne de Flandres

5 Service de génétique médicale - Unité de génétique clinique [Nantes]

6 Service de génétique médicale [Toulouse]

7 Unité de Cytogénétique et Génétique Médicale

8 IGDR - Institut de Génétique et Développement de Rennes

9 Service de Génétique

10 Centre de Génétique Humaine

11 IMAGINE - U1163 - Imagine - Institut des maladies génétiques

12 Service de Génétique Médicale [CHU Necker]

13 Inserm U781 - Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement

14 Irset - Institut de recherche en santé, environnement et travail

15 Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO) et Service de Génétique Médicale

16 Service de Génétique

17 CRNL - Centre de recherche en neurosciences de Lyon

18 IJM (UMR_7592) - Institut Jacques Monod

19 CHRU Nancy - Centre Hospitalier Régional Universitaire de Nancy

20 Service de Médecine Infantile III et Génétique Clinique [CHRU Nancy]

21 NGERE - Nutrition-Génétique et Exposition aux Risques Environnementaux

22 Service de foetopathologie

23 Groupe de recherche clinique 'déficience intellectuelle et autisme'

24 Unité fonctionnelle de neurogénétique moléculaire et cellulaire

25 Service de génétique

26 IGH - Institut de génétique humaine

27 Service de génétique [Tours]

28 Physiopathologie et neuroprotection des atteintes du cerveau en développement

29 Département de génétique

30 ILV - Institut Lavoisier de Versailles

31 CHU de Montpellier

Abstract : Purpose - Treacher Collins/Franceschetti syndrome (TCS; OMIM 154500) is a disorder of craniofacial development belonging to the heterogeneous group of mandibulofacial dysostoses. TCS is classically characterized by bilateral mandibular and malar hypoplasia, downward-slanting palpebral fissures, and microtia. To date, three genes have been identified in TCS:,TCOF1, POLR1D, and POLR1C. Methods - We report a clinical and extensive molecular study, including TCOF1, POLR1D, POLR1C, and EFTUD2 genes, in a series of 146 patients with TCS. Phenotype-genotype correlations were investigated for 19 clinical features, between TCOF1 and POLR1D, and the type of mutation or its localization in the TCOF1 gene. Results - We identified 92/146 patients (63%) with a molecular anomaly within TCOF1, 9/146 (6%) within POLR1D, and none within POLR1C. Among the atypical negative patients (with intellectual disability and/or microcephaly), we identified four patients carrying a mutation in EFTUD2 and two patients with 5q32 deletion encompassing TCOF1 and CAMK2A in particular. Congenital cardiac defects occurred more frequently among patients with TCOF1 mutation (7/92, 8%) than reported in the literature. Conclusion - Even though TCOF1 and POLR1D were associated with extreme clinical variability, we found no phenotype-genotype correlation. In cases with a typical phenotype of TCS, 6/146 (4%) remained with an unidentified molecular defect.

Keywords : TCOF1 phenotype–genotype correlations Franceschetti syndrome POLR1D Treacher Collins syndrome

Document type :

Journal articles

Domain :

Life Sciences [q-bio]

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Submitted on : Monday, March 23, 2015 - 2:48:13 PM
Last modification on : Wednesday, October 14, 2020 - 4:20:22 AM

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

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Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

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