Char Syndrome a novel mutation and new insights: A clinical report.

Transcription Factor AP-2 Beta (TFAP2B) functions in the differentiation of neural crest cell derivatives and contributes to the embryogenesis of the ductus arteriosus. Mutations of TFAP2B produces Char syndrome. Char syndrome is an autosomal dominant disorder comprising facial dysmorphism, hand anomalies, and patent ductus arteriosus (PDA). In this report, we describe a proband with a de novo TFAP2B frameshift mutation c.650delG p.(Gly217Alafs*32) in the basic domain. The proband presented mainly with musculoskeletal features of Char syndrome. No PDA was identified at presentation suggesting that this syndrome may prove to be phenotypically heterogeneous. This report will help illustrate the genotype/phenotype correlation of TAFB2 mutations and better delineate the clinical features in Char syndrome.

ß-cell autoimmunity in overweight non-diabetic youth: any implications?

BACKGROUND AND OBJECTIVE: The presence of ß-cell antibodies is associated with a high risk of type 1 diabetes. With increasing rates of obesity, the distinction between obese T1DM and T2DM has become difficult. Moreover, increasing body mass index (BMI) in at-risk children has been proposed not only as a possible contributor to T1DM by increasing insulin resistance, but also as exerting an effect via the immunomodulatory properties of certain adipokines. This study aimed to determine prevalence of ß-cell autoantibodies (AA) in overweight non-diabetic children and assess insulin sensitivity and secretion derived from an oral glucose tolerance test (OGTT) in those with vs. without ß-cell AA. RESEARCH DESIGN AND METHODS: A total of 357 overweight (BMI > 85%) youths underwent OGTTs, dual energy X-ray absorptiometry (DEXA) and measurement of GAD65 and IA-2 AA according to the NIDDK harmonization assay. Using the same methodology, AA were measured in 90 normal weight, non-diabetic individuals. RESULTS: About 1.9% of overweight and 4.4% of control normal weight children had evidence of ß-cell autoimmunity, with GAD65 AA detected in all subjects but none with IA-2. Youth with positive vs. those with negative AA had higher leptin/adiponectin ratio, glucose at 60 min and C-peptide at 90 min. CONCLUSIONS: These findings suggest that the prevalence of ß-cell AA in overweight youth may be similar to that in non-overweight children. Further studies using standardized methods are required.