Infantile Leukoencephalopathy, Paragangliomas

 

INFANTILE LEUKOENCEPHALOPATHY, PARAGANGLIOMAS

Hereditary paraganglioma-pheochromocytoma is a condition characterised by the growth of noncancerous (benign) tumours in structures called paraganglia, affecting approximately 1 in 1 million people. Mutations in the SDHD gene predispose to hereditary paraganglioma-pheochromocytoma type 1; mutations in the SDHAF2 gene predispose to type 2; mutations in the SDHC gene predispose to type 3; and mutations in the SDHB gene predispose to type 4. Mutations in the SDHAF1 gene are a cause of SDH defective infantile leukoencephalopathy.

 

The SDHB gene (8 exons) spans ~36 kb of genomic DNA and is located on chromosome 1p36.1. The SDHC gene (6 exons) spans ~50 kb of genomic DNA and is located on chromosome 1q23.3. The SDHD gene (4 exons), spans ~9 kb of genomic DNA and is located on chromosome 11q23.1. The SDHAF1 gene (1 exon) spans ~1.1 kb on chromosome 19q13.12 and the SDHAF2 gene (4 exons) spans ~17 kb on chromosome 11q12.2.

 

This P226-C1 SDH probemix contains probes for all exons of the SDHB, SDHC, SDHD, SDHAF1 and SDHAF2 genes. Also, 12 reference probes are included in this probemix, detecting different autosomal chromosomal locations.