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. 2018 Oct;94(3-4):373-380.
doi: 10.1111/cge.13409. Epub 2018 Jul 23.

IL11RA-related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences

E Brischoux-Boucher  1 , A Trimouille  2 , G Baujat  3 , A Goldenberg  4 , E Schaefer  5 , B Guichard  6 , P Hannequin  7 , G Paternoster  8 , S Baer  5 , C Cabrol  1 , E Weber  9 , G Godfrin  10 , M Lenoir  11 , D Lacombe  2 , C Collet  12 , L Van Maldergem  1   13   14
Affiliations

IL11RA-related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences

E Brischoux-Boucher et al. Clin Genet. 2018 Oct.

Abstract

By describing 10 new patients recruited in centres for Human Genetics, we further delineate the clinical spectrum of a Crouzon-like craniosynostosis disorder, officially termed craniosynostosis and dental anomalies (MIM614188). Singularly, it is inherited according to an autosomal recessive mode of inheritance. We identified six missense mutations in IL11RA, a gene encoding the alpha subunit of interleukin 11 receptor, 4 of them being novel, including 2 in the Ig-like C2-type domain. A subset of patients had an associated connective tissue disorder with joint hypermobility and intervertebral discs fragility. A smaller number of teeth anomalies than that previously reported in the two large series of patients evaluated in dental institutes points toward an ascertainment bias.

Keywords: Crouzon syndrome; IL11RA; craniosynostosis; hyperlaxity.

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