NOTCH2 EXON 34 ANALYSIS IN HAJDU-CHENEY SYNDROME
Hajdu-Cheney syndrome is a rare autosomal dominant disorder characterised by craniofacial abnormalities, progressive focal bone destruction, including acro-osteolysis and generalised osteoporosis and periodontal disease. Additional features include cleft palate, congenital heart defects, polycystic kidneys and genital, intestinal and ocular abnormalities.
Truncating variants in exon 34 of the NOTCH2 gene have been identified in 83-93% of individuals with a clinical diagnosis of Hajdu-Cheney syndrome (Simpson et al 2011: Nat Genet 43(4) 303-305 and Isidor et al 2011: Nat Genet 43(4) 306-308).
There is phenotypic overlap of Hajdu-Cheney syndrome (HCS) with Lateral Meningocele syndrome, caused by truncating variants in the last coding exon of NOTCH3.
Please note: for NHS patients in England this test has been superseded with gene panel testing (please contact your local Genomic Laboratory Hub to determine the most appropriate panel). Single gene testing is only available if required urgently for clinical management.
The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.
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