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Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature
Author(s) -
Ghesh Leila,
Vincent Marie,
Delemazure AnneSophie,
Boyer Julie,
Corre Pierre,
Perez Fabienne,
Geneviève David,
Laplanche JeanLouis,
Collet Corinne,
Isidor Bertrand
Publication year - 2019
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61147
Subject(s) - treacher collins syndrome , genetics , inheritance (genetic algorithm) , autosomal recessive inheritance , phenotype , biology , mutation , gene , genotype , craniofacial
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.