New Missense Mutation His2026Arg in the Factor VIII Gene Was Revealed in Two Female Patients with Clinical Manifestation of Hemophilia A
Surin V. L., Salomashkina V. V., Pshenichnikova O. S., Perina F. G., Bobrova O. N., Ershov V. I., Budanova D. A., Gadaev I. Yu., Konyashina N. I., Zozulya N. I.
Russian Journal of Genetics
Vol.54, Issue6, P. 712-716
Опубликовано: 2018
Тип ресурса: Статья
DOI:10.1134/S102279541806011X
Аннотация:
Hemophilia A is a recessive X-linked hereditary disease, so its manifestation in women is extremely rare and can be a result of an asymmetric X-chromosome inactivation or, even more rarely, of a presence of mutations in both FVIII gene alleles. We conducted a mutation screening of the FVIII gene in two female patients with clinical hemophilia A manifestation in this study. One patient had a hereditary disease; the second one was diagnosed with acquired hemophilia A as an adult. Both patients carried the same missense mutation His2026Arg. The patient with the hereditary form of the disease also had previously known microinsertion c.4379_4380 insA (p.Asn1460Lys-fs*1). We found no additional aberrations by sequencing of all functionally significant parts of the factor VIII gene of the patient with acquired hemophilia but showed clear asymmetric inactivation of X-chromosomes. Therefore, one of the possible explanations for the emergence of the hemophilic syndrome in this case can be the de
Ключевые слова:
factor VIII gene; hemophilia A; inactivation of X chromosome; X chromosome
arginine; His2026Arg; histidine; unclassified drug; adult; Article; autoimmune disease; child; DNA extraction; electrophoresis; female; gene mutation; gene sequence; genetic disorder; hemophilia A; heredity; human; middle aged; missense mutation; polymerase chain reaction; priority journal; school child; screening; X chromosome
Язык текста: Английский
ISSN: 1608-3369
Surin V. L.
Salomashkina V. V.
Pshenichnikova O. S.
Perina F. G.
Bobrova O. N.
Ershov V. I. Vladimir Igorevich 1943-
Budanova D. A. Dar`ya Aleksandrovna 1980-
Gadaev I. Yu. Igor` Yuryevich 1967-
Konyashina N. I.
Zozulya N. I.
Сурин В. Л.
Саломашкина В. В.
Пшеничникова О. С.
Перина Ф. Г.
Боброва О. Н.
Ершов В. И. Владимир Игоревич 1943-
Буданова Д. А. Дарья Александровна 1980-
Гадаев И. Ю. Игорь Юрьевич 1967-
Коняшина Н. И.
Зозуля Н. И.
New Missense Mutation His2026Arg in the Factor VIII Gene Was Revealed in Two Female Patients with Clinical Manifestation of Hemophilia A
Текст визуальный непосредственный
Russian Journal of Genetics
Pleiades Publishing, Inc.
Vol.54, Issue6 P. 712-716
2018
Статья
factor VIII gene hemophilia A inactivation of X chromosome X chromosome
arginine His2026Arg histidine unclassified drug adult Article autoimmune disease child DNA extraction electrophoresis female gene mutation gene sequence genetic disorder hemophilia A heredity human middle aged missense mutation polymerase chain reaction priority journal school child screening X chromosome
Hemophilia A is a recessive X-linked hereditary disease, so its manifestation in women is extremely rare and can be a result of an asymmetric X-chromosome inactivation or, even more rarely, of a presence of mutations in both FVIII gene alleles. We conducted a mutation screening of the FVIII gene in two female patients with clinical hemophilia A manifestation in this study. One patient had a hereditary disease; the second one was diagnosed with acquired hemophilia A as an adult. Both patients carried the same missense mutation His2026Arg. The patient with the hereditary form of the disease also had previously known microinsertion c.4379_4380 insA (p.Asn1460Lys-fs*1). We found no additional aberrations by sequencing of all functionally significant parts of the factor VIII gene of the patient with acquired hemophilia but showed clear asymmetric inactivation of X-chromosomes. Therefore, one of the possible explanations for the emergence of the hemophilic syndrome in this case can be the de