Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.

[zellweger syndrome]

The autosomal recessive Zellweger syndrome spectrum (ZSS ) disorders comprise a main subgroup of the peroxisome biogenesis disorders . The ZSS disorders can be caused by mutations in any of 12 different currently identified PEX genes resulting in severe , often lethal , multi-systemic disorders . Defects in the PEX 6 gene are the second most common cause for ZSS disorders . The encoded protein PEX 6 belongs to the AAA ATPase family and contains two AAA cassettes and an AAA protein family signature . The PEX 6 gene consists of 17 exons and previously mutations in the PEX 6 gene were found to be scattered over all exons . We developed a post-PCR high -resolution melting (HRM ) curve assay to scan the PEX 6 gene for potential sequence variations followed by selective sequencing to identify these . We analyzed the PEX 6 genes of 75 patients assigned to the PEX 6 complementation group . We identified a total of 77 different mutations of which 47 mutations have not been reported previously , and 14 polymorphic variants .

Diseases
Validation

Diseases presenting "high-resolution melting" symptom

familial hypocalciuric hypercalcemia

homocystinuria without methylmalonic aciduria

pendred syndrome

zellweger syndrome

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