4 research outputs found

    Genetics of intellectual disability in consanguineous families

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    Autosomal recessive (AR) gene defects are the leading genetic cause of intellectual disability (ID) in countries with frequent parental consanguinity, which account for about 1/7th of the world population. Yet, compared to autosomal dominant de novo mutations, which are the predominant cause of ID in Western countries, the identification of AR-ID genes has lagged behind. Here, we report on whole exome and whole genome sequencing in 404 consanguineous predominantly Iranian families with two or more affected offspring. In 219 of these, we found likely causative variants, involving 77 known and 77 novel AR-ID (candidate) genes, 21 X-linked genes, as well as 9 genes previously implicated in diseases other than ID. This study, the largest of its kind published to date, illustrates that high-throughput DNA sequencing in consanguineous families is a superior strategy for elucidating the thousands of hitherto unknown gene defects underlying AR-ID, and it sheds light on their prevalence

    Preliminary report of a nationwide case-control study for identifying risk factors of tuberculosis following renal transplantation

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    Background. Tuberculosis (TB) is an important infection encountered posttransplantation, especially among patients in developing countries, where there are high incidences of morbidity and mortality. Materials and Methods. One hundred and twenty subjects (1) from 15 major kidney transplantation centers in Iran from 1984 to 2003 were compared with 440 controls who were matched for operative time, treatment center, and surgical team. Results. Mean ages of research subjects and controls were 38.6 and 36.6 years (P = .04), respectively. The mean duration of pretransplantation hemodialysis was 29 months (range, 2 to 192 months) in research subjects and 20 months (range, 1 to 180 months) in controls (P = .003). Positive past history of tuberculosis was detected in 4 (3.3) research subjects and in 7 (1.5) controls (P = .2). Fifty-two research subjects (43.3) and 241 controls (54.8) had pretransplantation purified protein derivative of tuberculin less than 5 mm (P = .02). Mean dosages of initial and maintenance immunosuppressive drugs in research subjects and in controls were not significantly different. Sixty research subjects (50) and 152 controls (34.5) had rejection prior to diagnosis of TB (P = .03). Conclusion. To our knowledge, this is the first study that demonstrates an increased risk of posttransplant TB by prolonged duration of pretransplant hemodialysis and number of posttransplant rejection episodes. Further study is needed to clarify these findings specifically with respect to various immunosuppressive regimens. © 2005 by Elsevier Inc. All rights reserved
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