Diversity of cystic fibrosis mutation-screening practices

Article Abstract:

A lack of uniformity in practices was revealed in a survey of laboratories offering screening for cystic fibrosis mutations. Forty-three laboratories responded, covering most of those offering such tests. The number of mutations screened for ranges from one to 70, with a median of about 12-14 mutations. Definite guidelines for specific mutations and minimal test panel sensitivities relative to ethnic populations being tested would be beneficial.

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A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression burst pattern (Ohtahara syndrome)

Article Abstract:

The article shows that early infantile epileptic with suppression-burst pattern (EIEE) has a longer expansion of the polyalanine tract instead the one seen in west syndrome. And is consistent with the findings of the earlier onset and more-severe phenotypes in EIEE than in west syndrome.

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Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance

Article Abstract:

The splice mutation in the iron-sulfur cluster scaffold protein ISCU is found to cause myopathy with exercise intolerance in patients. The other human diseases that are caused by the defects in iron-sulfur cluster biogenesis are also investigated.

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