Article
Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease.
Human mutation - 1 Nov 2016
Chen Brenden, Solis-Villa Constanza, Hakenberg Jörg, Qiao Wanqiong, Srinivasan Ramakrishnan R, Yasuda Makiko, Balwani Manisha, Doheny Dana, Peter Inga, Chen Rong, Desnick Robert J
Abstract excerpt
Acute intermittent porphyria results from hydroxymethylbilane synthase (HMBS) mutations that markedly decrease HMBS enzymatic activity. This dominant disease is diagnosed when heterozygotes have life-threatening acute attacks, while most heterozygotes remain asymptomatic and undiagnosed. Although >400 HMBS mutations have been reported, the prevalence of pathogenic HMBS mutations in genomic/exomic databases, and...
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