Open AccessDouble Heterozygous Germline HNF1A Mutations in a Patient With Liver Adenomatosis
Author(s) -
Emmanuelle Jeannot,
Geneviève Lacape,
H. Gin,
Gabrielle Couchy,
Jean Saric,
H. Laumonier,
Brigitte Le Bail,
Paulette BioulacSage,
Charles Balabaud,
Jessica ZucmanRossi
Publication year - 2012
Publication title -
diabetes care
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.636
H-Index - 363
eISSN - 1935-5548
pISSN - 0149-5992
DOI - 10.2337/dc12-0030
Subject(s) - medicine , hnf1a , germline mutation , hepatocellular adenoma , maturity onset diabetes of the young , gestational diabetes , diabetes mellitus , germline , somatic cell , pregnancy , genetic testing , gastroenterology , mutation , type 2 diabetes , endocrinology , pediatrics , gestation , adenoma , genetics , gene , biology
The HNF1A gene is inactivated by mutations in 35% of hepatocellular adenomas (HCAs) (1,2), rare benign liver tumors. In 90% of these HCAs, mutations are biallelic and somatic. In rare cases, one mutation has a germline origin and the second mutation is somatic, thus meeting the genetic criteria of maturity-onset diabetes of the young type 3 (MODY3).Liver adenomatosis (LA) with more than 30 nodules was diagnosed in a 27-year-old patient during the second trimester of a first pregnancy. She has taken oral contraceptives for 10 years and had a slightly abnormal glucose tolerance test at age 18. Gestational diabetes was diagnosed at the 6th month, but she refused insulin therapy and had induced labor at 8 months. Glycemia came back to normal 6 days after delivery and always has been since.Three …
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