Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature

被引：16

作者：

Ghesh, Leila ^{[1
]}

Vincent, Marie ^{[1
]}

Delemazure, Anne-Sophie ^{[2
]}

Boyer, Julie ^{[3
]}

Corre, Pierre ^{[4
]}

Perez, Fabienne ^{[5
]}

Genevieve, David ^{[6
]}

Laplanche, Jean-Louis ^{[7
]}

Collet, Corinne ^{[7
]}

Isidor, Bertrand ^{[1
]}

机构：

[1] CHU Nantes, Serv Genet Med, Nantes, France

[2] CHU Nantes, Serv Radiol, Nantes, France

[3] CHU Nantes, Serv ORL, Nantes, France

[4] CHU Nantes, Serv Chirurg Maxillofaciale & Stomatol, Nantes, France

[5] CHU Nantes, Serv Odontol Conservatrice & Pediat, Nantes, France

[6] Univ Montpellier I, Fac Med Montpellier Nimes, CHRU Montpellier, Dept Genet Med, Montpellier, France

[7] Hop Lariboisiere, Dept Biochim & Biol Mol, Paris, France

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2019年 / 179卷 / 07期

关键词：

autosomal recessive; POLR1C; Treacher Collins syndrome; PATHOGENESIS; RNA; DIAGNOSIS; TCOF1;

D O I：

10.1002/ajmg.a.61147

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：1390 / 1394

页数：5

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