Identification of a novel mutation in ALMS1 in a Chinese patient with monogenic diabetic syndrome by whole-exome sequencing.

Alstrom syndrome (AS) is one type of monogenic diabetic syndromes caused by mutation in the ALMS1. Due to rare prevalence and overlaps of clinical symptoms, monogenic diabetes is often misdiagnosed. Here, we report a Chinese diabetes patient with poor blood glucose control and insulin resistance. With whole-exome sequencing (WES), this patient was classified into monogenic diabetes and diagnosed as AS with one novel gene mutation identified. This study highlights the clinical application of WES in the diagnosis of monogenic diabetes.

[Use body fat determination instead of simple body composition parameters evaluate the risk of metabolic syndrome in Fuzhou adults].

OBJECTIVE: To compare the application of two different definitions of MS (IDF2005 and ATPIII2001) in this study population. According to IDF2005, evaluate the impact of body fat content and its distribution for the risk of metabolic syndrome. METHODS: The sample of 818 subjects measure the simple anthropometric parameters including body mass index (BMI), waist circumference, waist-hip ratio (WHR), and so on. Body fat mass and distribution were measured by dual-energy X-ray absorptiometry (DEXA). Quartile method is used to analyse the relevance ratio of MS in different value of BF and TF. ROC curve is used in evaluating of tipping point of BF, TF, simple body composition parameters and reliability of diagnosis. The risk of MS were analyzed by logistic regression. RESULTS: According to IDF2005, when BF, TF > or = P50. the relevance ratio of MS has a remarkable increasing (P < 0.01), its matching BMI is 24 and 23 kg/m2, according to NCEP ATPIII2001, when BF, TF > or =P75, the relevance ratio of MS has a remarkable increasing, too (P < 0.01), its matching BMI value is 26 kg/m2, BF and TF of MS patients which diagnosed by IDF2005 are lower than ATPIII2001 (P < 0.05). For each additional level of BF,the odds ratios of MS prevalence were 1.952 (male) and 2.644 (female); for each additional level of TF,the odds ratios of MS prevalence were 3. 276 (male) and 3.058 (female), BMI, WHR were not into the equation. The AUCROC which used to evaluate the exist of MS by BF and TF is larger than 0.9, and has better performance in sensitivity and specificity than BMI and WHR; the best point of contact of MS in BF is 25% (male), 35% (female), in TF is 30% (male), 38% (female). CONCLUSION: ATPIII standards may have been missed MS patients with normal high fasting blood glucose value and abdominal obesity. The application of IDF2005 standards was proved better in this population. Compared with simple anthropometric parameters, the accumulation of body fat, especially trunk fat even more harmful, to is better to identify the risk of MS in Fuzhou adults population.