Aarskog-Scott syndrome: clinical and molecular characterisation of a family with the coexistence of a novel FGD1 mutation and 16p13.11-p12.3 microduplication.
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.
['Pavone|Piero|P|', 'Marino|Silvia|S|', 'Maniaci|Antonino|A|http://orcid.org/0000-0002-1251-0185', 'Cocuzza|Salvatore|S|']
D000015:Abnormalities, Multiple D000328:Adult D000073537:Biological Variation, Population D002657:Child Development D003937:Diagnosis, Differential D004392:Dwarfism D005145:Face D005260:Female D020131:Genes, Duplicate D040181:Genetic Diseases, X-Linked D005837:Genitalia, Male D020662:Guanine Nucleotide Exchange Factors D006228:Hand Deformities, Congenital D006330:Heart Defects, Congenital D006801:Humans D007223:Infant D008297:Male D009154:Mutation D010346:Patient Care Management D010375:Pedigree D000072858:Psychosocial Support Systems
genetics congenital disorders developmental paediatrocs ear, nose and throat/otolaryngology