Berardinelli-Seip syndrome patient with novel AGPAT2 splicesite mutation and concomitant development of non-diabetic polyneuropathy

We report the case history of a 27 year old female CGL1 patient presenting with unusual additional development of non-diabetic peripheral neuropathy (PN) and learning disabilities in early adolescence. Whole exome sequencing (WES) of the patient genome identifies a novel rare variant homozygous for a 52 bp intronic deletion in the AGPAT2 locus uniquely associated with CGL1 seipinopathies, with no molecular evidence for dual diagnosis. Functional studies using RNA isolated from patient peripheral blood leucocytes show abnormal RNA splicing resulting in the loss of 25 amino acids from patient AGPAT2 protein coding sequence. Stability and transcription levels for the misspliced AGPAT2 mRNA in our patient nonetheless remain normal. Any AGPAT2 protein produced in our patient is therefore likely to be dysfunctional. However, formal linkage of this deletion to the neuropathy observed remains to be shown. The classical clinical presentation of a patient with AGPAT2-associated lipodystrophy shows normal cognition and no development of polyneuropathy. Cognitive disabilities and polyneuropathy are features to date associated exclusively with clinical CGL type 2 arising from BSCL2 gene mutations. This case study suggests that in some genetic contexts, AGPAT2 mutations can also produce phenotypes with primary polyneuropathy. PMID: 30563316 [PubMed - as supplied by publisher]
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

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Source: Journal of Orthopaedic Trauma - Category: Orthopaedics Tags: Original Article Source Type: research
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Source: Journal of Emergency Nursing: JEN - Category: Nursing Authors: Tags: Editorial Source Type: research
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Source: Medscape Today Headlines - Category: Consumer Health News Tags: Diabetes & Endocrinology Journal Article Source Type: news
This article summarizes two evidence-based, well-structured occupational therapy (OT) programs that use activity-based treatments and psychosocial strategies, respectively, to improve DSM abilities and to enhance quality of life. As the needs of adolescents with diabetes are quite different from other diabetic populations, this article also provides a summary of pediatric OT interventions that aim to facilitate autonomy and development of DSM ability among adolescents with diabetes. Evidence indicates that OT interventions can improve the quality of life and treatment adherence in patients with diabetes and hence should be...
Source: International Journal of Endocrinology - Category: Endocrinology Tags: Int J Endocrinol Source Type: research
Source: BMJ - Category: General Medicine Source Type: research
Authors: Al-Rawaf HA, Gabr SA, Alghadir AH Abstract Background: Circulating micro-RNAs are differentially expressed in various tissues and could be considered as potential regulatory biomarkers for T2DM and related complications, such as chronic wounds. Aim: In the current study, we investigated whether ginger extract enriched with [6]-gingerol-fractions either alone or in combination with vitamin D accelerates diabetic wound healing and explores underlying molecular changes in the expression of miRNA and their predicted role in diabetic wound healing. Methods: Diabetic wounded mice were treated with [6]-gi...
Source: Evidence-based Complementary and Alternative Medicine - Category: Complementary Medicine Tags: Evid Based Complement Alternat Med Source Type: research
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Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
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Source: Journal of Diabetes Investigation - Category: Endocrinology Authors: Tags: Review Article Source Type: research
ConclusionDiabetic peripheral neuropathy is associated with abnormal GCC FLV at the macula, which is independent of diabetic retinopathy, age, sex, type of diabetes, duration of diabetes and HbA1c levels. An abnormality in GCC FLV is an independent predictor of diabetic peripheral neuropathy.
Source: Clinical and Experimental Optometry - Category: Opthalmology Authors: Tags: Research Paper Source Type: research
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Source: Current Eye Research - Category: Opthalmology Authors: Tags: Curr Eye Res Source Type: research
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