Please use this identifier to cite or link to this item: http://doi.org/10.25358/openscience-6309
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dc.contributor.authorDing, Can-
dc.contributor.authorBeetz, Rolf-
dc.contributor.authorRittner, Gabriele-
dc.contributor.authorBartsch, Oliver-
dc.date.accessioned2021-08-26T07:42:33Z-
dc.date.available2021-08-26T07:42:33Z-
dc.date.issued2020-
dc.identifier.urihttps://openscience.ub.uni-mainz.de/handle/20.500.12030/6319-
dc.description.abstractThere are two forms of diabetes insipidus, central (neurohypophyseal), and nephrogenic, caused by pathogenic variants in the AVP gene and the AVPR2 or AQP2 genes, respectively. We report on a four-generation family, seven individuals had central diabetes insipidus (CDI) and the female index patient seen from age 16 to 26 years had (mild) nephrogenic diabetes insipidus. In her father with CDI, a known pathogenic heterozygous AVP variant c.232_234del p.(Glu78del) was identified, confirming the diagnosis of CDI in him and the other affected family members. In the proband, molecular analysis disclosed a novel heterozygous AVPR2 gene variant, c.962A > T p.(Asn321Ile) and an extremely skewed X-inactivation, confirming X-linked nephrogenic diabetes insipidus (XL-NDI). Whole exome sequencing showed no further causative mutation. This is the first report on the co-existence of CDI and NDI in one family. Our review of symptomatic female AVPR2 heterozygotes includes 23 families with at least one affected female (including this study). There were 21 different causative mutations. Mutation types in females did not differ from those in males. Both severe XL-NDI and mild forms were reported in females. All six females with severe XL-NDI had complete loss-of-function (null) mutations. The remaining 17 female probands had milder XL-NDI caused by 14 missense variants and three null variants of the AVPR2 gene. X-inactivation was studied in nine of these females; all showed extreme or slight skewing. The review underlines that XL-NDI in female AVPR2 heterozygotes is always accompanied by skewed X-inactivation, emphasizing a need for X-inactivation studies in these females.en_GB
dc.language.isoengde
dc.rightsCC-BY-NC*
dc.rights.urihttps://creativecommons.org/licenses/by-nc/4.0/*
dc.subject.ddc610 Medizinde_DE
dc.subject.ddc610 Medical sciencesen_GB
dc.titleA female with X-linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus : case report and review of the literatureen_GB
dc.typeZeitschriftenaufsatzde
dc.identifier.doihttp://doi.org/10.25358/openscience-6309-
jgu.type.dinitypearticleen_GB
jgu.type.versionPublished versionde
jgu.type.resourceTextde
jgu.organisation.departmentFB 04 Medizinde
jgu.organisation.number2700-
jgu.organisation.nameJohannes Gutenberg-Universität Mainz-
jgu.rights.accessrightsopenAccess-
jgu.journal.titleAmerican journal of medical genetics : Part Ade
jgu.journal.volume182de
jgu.journal.issue5de
jgu.pages.start1032de
jgu.pages.end1040de
jgu.publisher.year2020-
jgu.publisher.nameWiley-Lissde
jgu.publisher.placeNew York, NYde
jgu.publisher.urihttps://doi.org/10.1002/ajmg.a.61516de
jgu.publisher.issn1552-4833de
jgu.organisation.placeMainz-
jgu.subject.ddccode610de
Appears in collections:JGU-Publikationen

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