Letter by Hernandez-Gonzalez et al Regarding Article, “Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension”
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To the Editor:
We read with great interest the study by Hadinnapola et al1 evaluating the phenotype of eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4) mutation carriers in a nationwide cohort of pulmonary arterial hypertension patients.
We were surprised by the small number of familial cases (1/14 patients) as compared with previous reports. There is no mention of known consanguinity, frequent in autosomal recessive diseases.
Our group described a founder homozygote mutation in EIF2AK4 in 18 Iberian Romani patients among 5 unrelated families with hereditary pulmonary veno-occlusive disease (PVOD). …