TY - JOUR

T1 - Мутация сайта сплайсинга c.290+1G>A в гене STK11 в семье с синдромом Пейтца-Егерса

AU - Мамадалиева, Л.И.

AU - Иванова, Елизавета Алексеевна

AU - Нургалиева, Альфия Хаматьяновна

AU - Хуснутдинова, Эльза Камилевна

AU - Бермишева, Марина Алексеевна

PY - 2024/3/7

Y1 - 2024/3/7

N2 - Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disease caused by mutations in the Serine-Threonine Kinase 11 (STK11) gene. We performed genetic molecular testing, analysis of a pedigree and clinical features of the PJS proband. A heterozygous splice site c.290+lG>A mutation in STK11 gene was found in the 25-year-old patient with clinical manifestations of PJS. Other family members with gastrointestinal polyps, skin oral mucosa hyperpigmentation have been identified as mutation carriers. Father, grandmother, and aunt of the proband were diagnosed with cancer, including small intestine, lung, and cervical cancer.

AB - Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disease caused by mutations in the Serine-Threonine Kinase 11 (STK11) gene. We performed genetic molecular testing, analysis of a pedigree and clinical features of the PJS proband. A heterozygous splice site c.290+lG>A mutation in STK11 gene was found in the 25-year-old patient with clinical manifestations of PJS. Other family members with gastrointestinal polyps, skin oral mucosa hyperpigmentation have been identified as mutation carriers. Father, grandmother, and aunt of the proband were diagnosed with cancer, including small intestine, lung, and cervical cancer.

KW - Peutz-Jeghers syndrome

KW - STK11 gene

KW - gastrointestinal polyps

KW - pathogenic variant

UR - https://www.mendeley.com/catalogue/265e891a-4874-3866-9a2e-2ea34c656c66/

U2 - 10.37469/0507-3758-2024-70-1-127-131

DO - 10.37469/0507-3758-2024-70-1-127-131

M3 - статья

VL - 70

SP - 127

EP - 131

JO - Вопросы онкологии

JF - Вопросы онкологии

SN - 0507-3758

IS - 1

ER -