naa a22 4500 510773508 CHVBK 20180411083222.0 cr unu---uuuuu 180411e20131201xx s 000 0 eng 10.1007/s12022-013-9268-5 doi (NATIONALLICENCE)springer-10.1007/s12022-013-9268-5 Familial Isolated Pituitary Adenoma Caused by a Aip Gene Mutation not Described Before in a Family Context [Elektronische Daten] [J. García-Arnés, I. González-Molero, J. Oriola, N. Mazuecos, R. Luque, J. Castaño, M. Arraez] The cause of familial isolated pituitary adenomas (FIPA) remains unknown in a high percentage of cases, but the AIP gene plays an important role in the etiology. The aim of the study is to describe a family with FIPA syndrome and the results of genomic studies. A 16-year-old man had a giant prolactinoma resistant to medical treatment with delayed growth and pubertal development. His mother had been previously diagnosed with a nonfunctioning pituitary macroadenoma. Transsphenoidal endoscopic resection was performed and a genetic study revealed a heterozygous mutation in exon 6: 974G > A (p.Arg325Gln). Because the AIP gene is a tumor suppressor gene, we searched for loss of heterozygosity within the AIP gene by amplifying exon 6 from tumor tissue of the patient. In the electropherogram, only the A allele was amplified (hemizygous state), indicating loss of the normal allele. We report a Spanish family with FIPA in whom a mutation in the AIP gene previously unreported in a familiar context was identified. Springer Science+Business Media New York, 2013 AIP nationallicence Familiar isolated pituitary adenoma nationallicence Prolactinoma nationallicence García-Arnés J. Department of Endocrinology and Nutrition, Carlos Haya Hospital, Plaza del Hospital Civil s/n, 29010, Malaga, Spain aut González-Molero I. Department of Endocrinology and Nutrition, Carlos Haya Hospital, Plaza del Hospital Civil s/n, 29010, Malaga, Spain aut Oriola J. Biochemistry and Molecular Genetics Department, Hospital Clinic, Barcelona, Spain aut Mazuecos N. Laboratory Department, Carlos Haya Hospital, Malaga, Spain aut Luque R. Department of Cell Biology, Physiology, and Immunology, Reina Sofia Hospital/University of Cordoba, Cordoba, Spain aut Castaño J. Department of Cell Biology, Physiology, and Immunology, Reina Sofia Hospital/University of Cordoba, Cordoba, Spain aut Arraez M. Neurosurgery Department, Carlos Haya Hospital, Malaga, Spain aut Endocrine Pathology Springer US; http://www.springer-ny.com 24/4(2013-12-01), 234-238 1046-3976 24:4<234 2013 24 12022 https://doi.org/10.1007/s12022-013-9268-5 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s12022-013-9268-5 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- García-Arnés J. Department of Endocrinology and Nutrition, Carlos Haya Hospital, Plaza del Hospital Civil s/n, 29010, Malaga, Spain aut NATIONALLICENCE 700 1- González-Molero I. Department of Endocrinology and Nutrition, Carlos Haya Hospital, Plaza del Hospital Civil s/n, 29010, Malaga, Spain aut NATIONALLICENCE 700 1- Oriola J. Biochemistry and Molecular Genetics Department, Hospital Clinic, Barcelona, Spain aut NATIONALLICENCE 700 1- Mazuecos N. Laboratory Department, Carlos Haya Hospital, Malaga, Spain aut NATIONALLICENCE 700 1- Luque R. Department of Cell Biology, Physiology, and Immunology, Reina Sofia Hospital/University of Cordoba, Cordoba, Spain aut NATIONALLICENCE 700 1- Castaño J. Department of Cell Biology, Physiology, and Immunology, Reina Sofia Hospital/University of Cordoba, Cordoba, Spain aut NATIONALLICENCE 700 1- Arraez M. Neurosurgery Department, Carlos Haya Hospital, Malaga, Spain aut NATIONALLICENCE 773 0- Endocrine Pathology Springer US; http://www.springer-ny.com 24/4(2013-12-01), 234-238 1046-3976 24:4<234 2013 24 12022 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer