A Phelan McDermid Syndrome familial genomic analysis. Specific features in the parental deleted allele.

Résumé fourni par la source

We describe a family case study including both parents and their Phelan McDermid Syndrome patient child. Both SHANK3 alleles of each family member were sequenced using Nanopore technology. The patient mutated allele presents a subtelomeric deletion that initiates in the intron 8. We identified the parental allele that got deleted and present a detailed analysis of its sequence. Several features appear to characterize this allele.

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