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Case report
Aarskog-Scott syndrome: clinical and molecular characterisation of a family with the coexistence of a novel FGD1 mutation and 16p13.11-p12.3 microduplication
  1. Piero Pavone1,2,
  2. Silvia Marino2,
  3. Antonino Maniaci3 and
  4. Salvatore Cocuzza3
  1. 1Department of Clinical and Experimental Sciences, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Sicilia, Italy
  2. 2Unit of Pediatrics and Pediatric Emergency, University of Catania, Catania, Sicilia, Italy
  3. 3ENT Section, University of Catania Department of Surgical and Medical Sciences Advanced Technologies GF Ingrassia, Catania, Sicilia, Italy
  1. Correspondence to Dr Antonino Maniaci; tnmaniaci29{at}


Aarskog-Scott syndrome (AAS), also known as facio-genital dysplasia or faciodigitogenital syndrome, is a rare genetic disorder clinically characterised by facial, limb and genitalanomalies. Although also autosomal dominance and recessive patterns have been reported, up to now, only an X linked form associated to mutations of the FGD1 gene has been recognised as causative for this syndrome.

In this case report, we describe a large Italian family in which three members across three generations show classical features of the syndrome. The youngest patient, the proband, and his mother were both molecularly studied and characterised for the not previously reported variant c.1828C>T (p. Arg610*) in the FGD1 gene but with the classic phenotype of AAS. Additionally, both the proband and his mother present a 2.5 Mb 16p13.11-p12.3 microduplication, a genetic variant still unclear for the phenotypic consequences: the co-occurrence of the two rare conditions is discussed for the possible clinical significance.

  • genetics
  • congenital disorders
  • developmental paediatrocs
  • ear, nose and throat/otolaryngology

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  • Contributors PP, SC and AM have planned and conceived the presented idea, after consulting the case studies present in the literature. SM and AM have designated both the structure of the work and the presentation of the various analytical steps. All authors participated in the acquisition of data and the processing of the same for correct interpretation. AM and SM have developed through collaboration the theory of analysis and management of the pathology under discussion and performed the research of the data in the literature useful for the treatment. SC and PP, therefore, verified the most suitable methods of diagnosis and treatment for the pathology proposed and established the best therapeutic choice. PP and SC supervised the results of this work. All authors discussed the results obtained and contributed to the final manuscript. PP and SM wrote the manuscript, reporting all the data and characteristics of greatest interest with the support of AM and SC supervising the project. AM and SC dealt with the theoretical formalism, the analysis of academic language. All the authors provided critical feedback and helped shape the study, analysis of the results obtained and the writing of the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.