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A Affected person with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Improvement of Non-diabetic Polyneuropathy

 

  • Main polyneuropathy within the context of Seip-Berardinelli kind 1 seipinopathy, or congenital generalized lipodystrophy kind 1 (CGL1) has not been beforehand reported.

 

  • We report the case historical past of a 27 yr outdated feminine CGL1 affected person presenting with an uncommon further growth of non-diabetic peripheral neuropathy and studying disabilities in early adolescence. Entire exome sequencing (WES) of the affected person genome recognized a novel variant, homozygous for a 52 bp intronic deletion within the AGPAT2 locus, coding for 1-acylglycerol-3-phosphate O-acyltransferase 2, which is uniquely related to CGL1 seipinopathies, with no molecular proof for twin analysis.

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  • Purposeful research utilizing RNA remoted from affected person peripheral blood leucocytes confirmed irregular RNA splicing ensuing within the lack of 25 amino acids from the affected person AGPAT2 protein coding sequence. Stability and transcription ranges for the misspliced AGPAT2 mRNA in our affected person nonetheless remained regular.

 

  • Any AGPAT2 protein produced in our affected person is due to this fact more likely to be dysfunctional. Nonetheless, formal linkage of this deletion to the neuropathy noticed stays to be proven.

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  • The classical medical presentation of a affected person with AGPAT2-associated lipodystrophy reveals regular cognition and no growth of polyneuropathy. Cognitive disabilities and polyneuropathy are options related completely with medical CGL kind 2 arising from seipin (BSCL2) gene mutations. This case research means that in some genetic contextsAGPAT2 mutations may also produce phenotypes with major polyneuropathy.

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  • netheless remained regular. Any AGPAT2 protein produced in our affected person is due to this fact more likely to be dysfunctional. Nonetheless, formal linkage of this deletion to the neuropathy noticed stays to be proven. The classical medical presentation of a affected person with AGPAT2-associated lipodystrophy reveals regular cognition and no development of polyneuropathy. Cognitive disabilities and pol

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