Array-comparative genomic hybridization analysis in a cohort of 130 children with Autism Spectrum Disorders: A single Center Italian Study.

Introduction: utism spectrum disorder (ASD) is a heterogeneous clinical condition, and its genetic basis is widely confirmed. The chromosomal microarray analysis (CMA) is a first-line diagnostic test that identifies copy number variants (CNVs). Some of these genomic rearrangements are associated with ASD, but the meaning of most of them is still unknown. Materials and methods: We performed a comparative genome hybridization (array-CGH) analysis in 130 children with confirmed ASD. Genetic results were analyzed and compared to clinical phenotype. Results and discussion.: 61/130 children carry CNVs, 44 presenting variants of unknown significance (u-CNVs), and 17 with susceptibility-CNVs (c-CNVs). Clinical evaluation showed no differences in cognitive abilities, language and EEG abnormalities, ASD symptoms among CNVs group and other patients. Finally, we highlight the role of GPHN, IMMP2L and ZMYND11, as ASD susceptibility genes. Conclusions: Our findings underscore the importance of array-CGH in ASD children since new CNVs and emerging genes appear to be associated with different clinical pictures.

Nodular dermatofibrosis in a dog without a renal tumour or a mutation in the folliculin gene.

Canine nodular dermatofibrosis is a rare skin disease associated with renal cystadenoma or cystadenocarcinoma and uncommonly with uterine leiomyoma. It is generally seen in German shepherd dogs, but has been also reported in other breeds, and a relationship has been suggested with mutation of the gene encoding folliculin (FLCN), which is located on chromosome 5. A 10-year-old female golden retriever was presented because of numerous firm cutaneous nodules up to 4 cm in diameter over the entire body surface. Cytological and histopathological examinations confirmed generalized cutaneous nodular dermatofibrosis, but ultrasonography of both kidneys ruled out renal neoplasia. Ovariohysterectomy was performed because of prolonged oestrus periods. Microscopical examination of the excised tissues confirmed the absence of uterine neoplasia, but identified rete adenoma of the right ovary. Abdominal ultrasound performed repeatedly over a 5-year follow-up period did not identify any alteration in the renal parenchyma. Molecular studies excluded the presence of any mutation in the FLCN gene.