European Journal of Human Genetics

TABLE 1

FROM:

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

Mehrdad Khajavi, Ken Inoue and James R Lupski

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Table 1. NMD altering the pattern of inheritance

Figure and tables index
Gene name Gene symbol OMIM reference no. Phenotype: 5' PTC AR References
    3' PTC AD  
Hemoglobin-beta HBB 141900 beta-Thalassemia 25, 26
Chloride channel 1, skeletal muscle CLCN1 1184255' PTC Becker disease 27
   3' PTC Thomsen disease 
Rhodopsin RHO 180380Retinitis pigmentosa 28, 49
Cone–rod homeobox-containing gene CRX 602225Leber congenital amaurosis 29
   5' PTC heterozygous normal 
   3' PTC AD 
Receptor tyrosine kinase-like orphan receptor 2 ROR2 6023375' PTC RRS 30
   3' PTC BDB1 
ATP-binding cassette, subfamily C member 6 ABCC6 603234PXE 34

 AR: autosomal recessive; AD: autosomal dominant; PTC: premature termination codon, genetic disorders; BDB1: brachydactyly type B1, PXE: pseudoxanthoma elasticum, RRS: robinow syndrome.

Figure and tables index
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