Skeletal abnormalities are common features in Ayme-Gripp syndrome

Niceta M, Barbuti D, Gupta N, Ruggiero C, Tizzano EF, Graul-Neumann L, Barresi S, Nishimura G, Valenzuela I, Lopez-Grondona F, Fernandez-Alvarez P, Leoni C, Zweier C, Tzschach A, Stellacci E, Del Fattore A, Dallapiccola B, Zampino G, Tartaglia M (2019)

Publication Type: Journal article

Publication year: 2019

Journal

Clinical Genetics Wiley-Blackwell

DOI: 10.1111/cge.13651

Abstract

Ayme-Gripp syndrome (AYGRPS) is a recognizable condition caused by a restricted spectrum of dominantly acting missense mutations affecting the transcription factor MAF. Major clinical features of AYGRPS include congenital cataracts, sensorineural hearing loss, intellectual disability, and a distinctive flat facial appearance. Skeletal abnormalities have also been observed in affected individuals, even though these features have not been assessed systematically. Expanding the series with four additional patients, here we provide a more accurate delineation of the molecular aspects and clinical phenotype, particularly focusing on the skeletal features characterizing this disorder. Apart from previously reported malar flattening and joint limitations, we document that carpal/tarsal and long bone defects, and hip dysplasia occur in affected subjects more frequently than formerly appreciated.

Authors with CRIS profile

Christiane Zweier Lehrstuhl für Humangenetik

Involved external institutions

Ospedale Pediatrico Bambino Gesu IT Italy (IT) All India Institute of Medical Sciences IN India (IN) Fondazione Policlinico Universitario Agostino Gemelli IRCCS IT Italy (IT) Saitama Medical University JP Japan (JP) Vall d'Hebron University Hospital / Hospital Universitari Vall d'Hebron ES Spain (ES) Universitätsklinikum Freiburg DE Germany (DE) Charité - Universitätsmedizin Berlin DE Germany (DE)

How to cite

APA:

Niceta, M., Barbuti, D., Gupta, N., Ruggiero, C., Tizzano, E.F., Graul-Neumann, L.,... Tartaglia, M. (2019). Skeletal abnormalities are common features in Ayme-Gripp syndrome. Clinical Genetics. https://doi.org/10.1111/cge.13651

MLA:

Niceta, Marcello, et al. "Skeletal abnormalities are common features in Ayme-Gripp syndrome." Clinical Genetics (2019).

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