Evolution of the phenotype of craniosynostosis with dental anomalies syndrome and report of IL11RA variant population frequencies in a Crouzon-like autosomal recessive syndrome

American Journal of Medical Genetics. Part a
Nisha KorakaviLaurie H Seaver

Abstract

In 2011, biallelic loss-of-function variants in the interleukin receptor 11 alpha gene IL11RA were found to be associated with a Crouzon-like craniosynostosis syndrome with associated dental anomalies (CRSDA). Since then, a total of 41 similar patients have been reported with IL11RA variants. We report two adult brothers diagnosed with Crouzon syndrome as children, in which the clinical diagnosis of CRSDA was made on reevaluation. Laboratory testing detected biallelic IL11RA variants, c.916_924dup (p.Thr306_Ser308dup) and c.781C > T (p.Arg261Cys), both of which have now been reported in other families. Protein modeling and conservation analysis show that these two mutation sites cluster together near a WSXWS motif that likely plays a significant role in regulating IL11RA protein function. Population analysis from gnomAD shows that Non-Finnish Europeans (similar to ethnicity of this family), have an allele frequency for p.Thr306_Ser308dup of 0.014% and p.Arg261Cys of 0.008%. We found other ethnicities have functional IL11RA missense variants at higher frequencies. With this report, we provide a summary of the clinical findings including details of middle ear anomalies associated with conductive hearing loss. We also provide data...Continue Reading

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Citations

May 30, 2019·American Journal of Medical Genetics. Part a·Maximilian Muenke
Dec 19, 2019·Special Care in Dentistry : Official Publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry·Kyungsup ShinSatheesh Elangovan
Feb 23, 2020·Der Pathologe·Juliane LokauChristoph Garbers
Jun 23, 2020·Bone Research·Tobias SchwerdHolm H Uhlig
Feb 11, 2021·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Lydia KochChristoph Garbers
Oct 13, 2019·Neuro-Chirurgie·T ArmandM Rossi
May 4, 2021·Cytokine & Growth Factor Reviews·Birte KespohlChristoph Garbers
Jun 12, 2021·Bone Research·Tobias SchwerdHolm H Uhlig

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