Skeletal abnormalities are common features in Aymé‐Gripp syndrome

• Published in: Clinical genetics Vol. 97; no. 2; pp. 362 - 369
• Main Authors: Niceta, Marcello, Barbuti, Domenico, Gupta, Neerja, Ruggiero, Carlos, Tizzano, Eduardo F., Graul‐Neumann, Luitgard, Barresi, Sabina, Nishimura, Gen, Valenzuela, Irene, López‐Grondona, Fermina, Fernandez‐Alvarez, Paula, Leoni, Chiara, Zweier, Christiane, Tzschach, Andreas, Stellacci, Emilia, Del Fattore, Andrea, Dallapiccola, Bruno, Zampino, Giuseppe, Tartaglia, Marco
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.02.2020
• Subjects: Adolescent; Adult; Aymé‐Gripp syndrome; bone defects; Bone dysplasia; Cataract - genetics; Cataract - pathology; Cataracts; Child; Child, Preschool; Facies; Female; Genetic Predisposition to Disease; Growth Disorders - genetics; Growth Disorders - pathology; Hearing loss; Hearing Loss, Sensorineural - genetics; Hearing Loss, Sensorineural - pathology; Hip; Humans; Infant; Intellectual disabilities; Intellectual Disability - genetics; Intellectual Disability - pathology; Long bone; MAF; Male; Missense mutation; Musculoskeletal Abnormalities - genetics; Musculoskeletal Abnormalities - pathology; Mutation, Missense - genetics; Phenotypes; Proto-Oncogene Proteins c-maf - genetics; skeletal dysplasia; Young Adult; bone defects; MAF; Aymé-Gripp syndrome; skeletal dysplasia

Aymé‐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 distinct...