Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype

American Journal of Medical Genetics. Part a
Emma M WadeStephen P Robertson

Abstract

Frontometaphyseal dysplasia (FMD) is caused by gain-of-function mutations in the X-linked gene FLNA in approximately 50% of patients. Recently we characterized an autosomal dominant form of FMD (AD-FMD) caused by mutations in MAP3K7, which accounts for the condition in the majority of patients who lack a FLNA mutation. We previously also described a patient with a de novo variant in TAB2, which we hypothesized was causative of another form of AD-FMD. In this study, a cohort of 20 individuals with AD-FMD is clinically evaluated. This cohort consists of 15 individuals with the recently described, recurrent mutation (c.1454C>T) in MAP3K7, as well as three individuals with missense mutations that result in substitutions in the N-terminal kinase domain of TGFβ-activated kinase 1 (TAK1), encoded by MAP3K7. Additionally, two individuals have missense variants in the gene TAB2, which encodes a protein with a close functional relationship to TAK1, TAK1-associated binding protein 2 (TAB2). Although the X-linked and autosomal dominant forms of FMD are very similar, there are distinctions to be made between the two conditions. Individuals with AD-FMD have characteristic facial features, and are more likely to be deaf, have scoliosis and ce...Continue Reading

References

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Citations

Feb 29, 2020·Human Mutation·Emma M WadeStephen P Robertson
Apr 18, 2020·Cold Spring Harbor Molecular Case Studies·Fatima AbuBakrSaquib A Lakhani
Dec 30, 2020·American Journal of Medical Genetics. Part a·Ruwangi DissanayakeNirmala D Sirisena
Feb 23, 2021·American Journal of Medical Genetics. Part a·Prabakaran GangadaranAnupriya Kaur
Aug 31, 2021·European Journal of Human Genetics : EJHG·Aafke EngwerdaWilhelmina S Kerstjens-Frederikse
Oct 31, 2021·Human Genome Variation·Asuka HoriKenichiro Hata
Jun 30, 2021·The Journal of Craniofacial Surgery·Thomas Roland-BillecartJoel Ferri

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