20.500.12556/DKUM-68842 A novel mutation in the FOXC2 gene a heterozygous insertion of adenosine (c.867insA) in a family with lymphoedema of lower limbs without distichiasis Background: Primary lymphoedema is a rare genetic disorder characterized by swelling of different parts of the body and highly heterogenic clinical presentation. Mutations in several causative genes characterize specific forms of the disease. FOXC2 mutations are associated with lymphoedema of lower extremities, usually distichiasis and late onset. Patients and methods: Subjects from three generations of a family with lymphoedema of lower limbs without distichiasis were searched for mutations in the FOXC2 gene. Results: All affected family members with lymphoedema of lower limbs without distichiasis, and still asymptomatic six years old girl from the same family, carried the same previously unreported insertion of adenosine (c.867insA) in FOXC2. Conclusions: Identification of a novel mutation in the FOXC2 gene in affected family members of three generations with lymphoedema of lower limbs without distichiasis, highlights the high phenotypic variability caused by FOXC2 mutations. primary lymphedema FOXC2 mutation distichiasis lower limbs lymphedema primarni limfedem mutacija FOXC2 distihiaza limfedem spodnjih okončin true false true Angleški jezik Slovenski jezik Znanstveno delo 2017-10-30 10:52:17 2017-10-30 10:53:46 2022-08-01 16:22:44 2019-07-11 17:12:13 2017 0 0 str. 363-368 št. 3 Letn. 51 2017 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 1318-2099 616.5 32649472 4221868 10.1515/raon-2017-0026 1318-2099 URN:SI:UM:DK:0TPPYBJJ Radiology_and_Oncology_2017_Planinsek_Rucigaj_et_al._A_novel_mutation_in_the_FOXC2_gene_a_heterozygous_insertion_of_adenosine_(c.867insA.pdf Radiology_and_Oncology_2017_Planinsek_Rucigaj_et_al._A_novel_mutation_in_the_FOXC2_gene_a_heterozygous_insertion_of_adenosine_(c.867insA.pdf 1 D5B66ED38C8307AC63DF015A9EDF29F3 26f0dddd48e07c95405a0eb212286aeb8923cd4abaabd1a4ff7307623c1744c6 76d0cde6-7c0f-11eb-bb7a-00155d0001ca 20.500.12556/dkum/ee50b0a9-44ba-415c-a891-b8411233bd93 https://dk.um.si/Dokument.php?lang=slv&id=119943 http://www.degruyter.com/view/j/raon.2017.51.issue-3/raon-2017-0026/raon-2017-0026.xml 1 https://dk.um.si/Dokument.php?lang=slv&id=119942 Medicinska fakulteta 0 0 0