Gutenberg Open Science: A female with X-linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus : case report and review of the literature

Please use this identifier to cite or link to this item: http://doi.org/10.25358/openscience-6309

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DC Field	Value	Language
dc.contributor.author	Ding, Can	-
dc.contributor.author	Beetz, Rolf	-
dc.contributor.author	Rittner, Gabriele	-
dc.contributor.author	Bartsch, Oliver	-
dc.date.accessioned	2021-08-26T07:42:33Z	-
dc.date.available	2021-08-26T07:42:33Z	-
dc.date.issued	2020	-
dc.identifier.uri	https://openscience.ub.uni-mainz.de/handle/20.500.12030/6319	-
dc.description.abstract	There 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.iso	eng	de
dc.rights	CC BY-NC	*
dc.rights.uri	https://creativecommons.org/licenses/by-nc/4.0/	*
dc.subject.ddc	610 Medizin	de_DE
dc.subject.ddc	610 Medical sciences	en_GB
dc.title	A female with X-linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus : case report and review of the literature	en_GB
dc.type	Zeitschriftenaufsatz	de
dc.identifier.doi	http://doi.org/10.25358/openscience-6309	-
jgu.type.dinitype	article	en_GB
jgu.type.version	Published version	de
jgu.type.resource	Text	de
jgu.organisation.department	FB 04 Medizin	de
jgu.organisation.number	2700	-
jgu.organisation.name	Johannes Gutenberg-Universität Mainz	-
jgu.rights.accessrights	openAccess	-
jgu.journal.title	American journal of medical genetics : Part A	de
jgu.journal.volume	182	de
jgu.journal.issue	5	de
jgu.pages.start	1032	de
jgu.pages.end	1040	de
jgu.publisher.year	2020	-
jgu.publisher.name	Wiley-Liss	de
jgu.publisher.place	New York, NY	de
jgu.publisher.uri	https://doi.org/10.1002/ajmg.a.61516	de
jgu.publisher.issn	1552-4833	de
jgu.organisation.place	Mainz	-
jgu.subject.ddccode	610	de
jgu.publisher.doi	10.1002/ajmg.a.61516
jgu.organisation.ror	https://ror.org/023b0x485
Appears in collections:	JGU-Publikationen

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