Article
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.
European journal of human genetics : EJHG - 1 Apr 2023
Piceci-Sparascio Francesca, Micale Lucia, Torres Barbara, Guida Valentina, Consoli Federica, Torrente Isabella, Onori Annamaria, Frustaci Emanuela, D'Asdia Maria Cecilia, Petrizzelli Francesco, Bernardini Laura, Mancini Cecilia, Soli Fiorenza, Cocciadiferro Dario, Guadagnolo Daniele, Mastromoro Gioia, Putotto Carolina, Fontana Franco, Brunetti-Pierri Nicola, Novelli Antonio, Pizzuti Antonio, Marino Bruno, Digilio Maria Cristina, Mazza Tommaso, Dallapiccola Bruno, Ruiz-Perez Victor Luis, Tartaglia Marco, Castori Marco, De Luca Alessandro
Abstract excerpt
Deleterious variants of DYNC2H1 gene are associated with a wide spectrum of skeletal ciliopathies (SC). We used targeted parallel sequencing to analyze 25 molecularly unsolved families with different SCs. Deleterious DYNC2H1 variants were found in six sporadic patients and two monozygotic (MZ) twins. Clinical diagnoses included short rib-polydactyly type 3 in two cases, and asphyxiating thoracic dystrophy (ATD)...
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