Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8684512 | European Journal of Paediatric Neurology | 2016 | 17 Pages |
Abstract
X-linked intellectual disability accounts for 10-12% of cases of cognitive impairment in males. Mutations in IL1RAPL1 are an emerging form of apparently non-syndromic X-linked intellectual disability. We report a 8-year-old intellectually disabled boy with speech delay, and unusual facial and digital anomalies who showed a novel and complex IL1RAPL1 rearrangement. It was defined by two intragenic non-contiguous duplications inherited from the unaffected mother. Chromosome X inactivation study on the mother's blood leukocytes, urinary sediment and buccal swab did not show a significant skewed inactivation. Comparison with previously described patients with IL1RAPL1 disruption was carried. Although data on craniofacial features were scanty in many papers, subtle facial dysmorphism with a thin upper lip seemed a quietly represented picture without any other genotype-phenotype correlations. Our study expands the molecular repertoire of IL1RAPL1 mutations in intellectual disability and points out the need of more accurate clinical descriptions to better define the related phenotype.
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Authors
Luigi Laino, Irene Bottillo, Caterina Piedimonte, Laura Bernardini, Barbara Torres, Barbara Grammatico, Simone Bargiacchi, Claudia Mulargia, Mauro Calvani, Francesco Cardona, Marco Castori, Paola Grammatico,