In inherited disorders transmitted as autosomal recessive traits the children of affected individuals are usually asymptomatic and phenotypically normal because they are heterozygous for the defect. In an Iranian Jewish family with moderately severe deficiency of coagulation factor VII (an autosomal recessive bleeding disorder) the son of an affected woman was also affected. DNA analysis of the factor VII gene showed that this unusual situation was due to the fact that he inherited an abnormal allele with the Ala244Val missense mutation from both the homozygous mother and the heterozygous father. The parents, although not overtly consanguineous, belong to the same ethnic group of Iranian Jews, among whom this factor VII gene mutation reaches high frequencies (between 2 and 3%) in the heterozygous state.

Apparently dominant transmission of a recessive disease: deficiency of factor VII in Iranian Jews / L. Tagliabue, F. Duca, F. Peyvandi. - In: ANNALI ITALIANI DI MEDICINA INTERNA. - ISSN 0393-9340. - 15:4(2000), pp. 263-266.

Apparently dominant transmission of a recessive disease: deficiency of factor VII in Iranian Jews

L. Tagliabue
Primo
;
F. Peyvandi
Ultimo
2000

Abstract

In inherited disorders transmitted as autosomal recessive traits the children of affected individuals are usually asymptomatic and phenotypically normal because they are heterozygous for the defect. In an Iranian Jewish family with moderately severe deficiency of coagulation factor VII (an autosomal recessive bleeding disorder) the son of an affected woman was also affected. DNA analysis of the factor VII gene showed that this unusual situation was due to the fact that he inherited an abnormal allele with the Ala244Val missense mutation from both the homozygous mother and the heterozygous father. The parents, although not overtly consanguineous, belong to the same ethnic group of Iranian Jews, among whom this factor VII gene mutation reaches high frequencies (between 2 and 3%) in the heterozygous state.
Settore MED/09 - Medicina Interna
2000
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/208095
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