Anti-PEX1 (full length) polyclonal antibody

Objectives: To analyze the clinical and laboratory data of neonates diagnosed with Zellweger syndrome and to estimate the incidence of the syndrome. Methods: The databases of four institutions that admitted newborns diagnosed with Zellweger syndrome to intensive care units between January 2013 and December 2016 were examined. Results: A total of 105,887 live babies were born in the four centers during the study period. Seven were diagnosed with Zellweger syndrome; the incidence was thus 1/15,126. Birth weights were 2,200 - 3,300 g. Six cases were born to consanguineous parents. Dysmorphic findings, respiratory failure, and hypotonia were evident in all patients. Hepatomegaly was apparent in four cases, congenital cardiac defects in four, characteristic cerebral magnetic resonance imaging findings in four, renal cysts in five, hepatic cysts in three, and splenomegaly in one. PEX1 mutations were identified in three patients, and one mutation was novel. Conclusions: The incidences of Zellweger syndrome and cardiac disease were higher than reported previously, being (to the best of our knowledge) among the highest reported worldwide. This is the first time that such incidences have been calculated in Turkey. The syndrome is more common in regions where consanguineous marriage rates are higher.

Background: Autosomal recessive Zellweger spectrum disorder (ZSD), the main subgroup of the peroxisome biogenesis disorders (PBDs), can be caused by mutations in any of the 13 PEX genes. Zellweger syndrome (ZS) is the most common and severe phenotype in the heterogeneous ZSD. For the large number genes involved, it is difficult to make a precise genetic diagnosis by traditional methods at a time. A combination of enrichment of targeted genes and next-generation sequencing (NGS) would result in both high efficiency and low cost for targeted sequencing of genes of interest. Methods: To identify potential mutations in a Chinese family associated with Zellweger syndrome, 1930 kb of all the targeted region of PEX genes were captured and sequenced using NGS. We also performed Sanger sequencing to validate the NGS results. Results: Here, we reported a Chinese patient diagnosed as a severe classic type of PBD based on a clinical investigation. We then performed microarray-based NGS to detect the variants in PEX genes of the whole family. One reported heterozygosis mutation (c.782_783delAA) was identified in the patient's father and one novel heterozygosis missense mutation (c.475G>C) was found in the patient's mother, the patient inherited both mutations. Conclusions: The results proved that the application of target sequence capture using chip and high-throughput NGS is a valuable tool for the molecular diagnosis of peroxisome biogenesis disorders. The accuracy, high-throughput and speed of the method make it suitable for clinical application. (c) 2012 Elsevier B.V. All rights reserved.