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Autoren: Ding, Can
Beetz, Rolf
Rittner, Gabriele
Bartsch, Oliver
Titel: A female with X-linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus : case report and review of the literature
Online-Publikationsdatum: 26-Aug-2021
Erscheinungsdatum: 2020
Sprache des Dokuments: Englisch
Zusammenfassung/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.
DDC-Sachgruppe: 610 Medizin
610 Medical sciences
Veröffentlichende Institution: Johannes Gutenberg-Universität Mainz
Organisationseinheit: FB 04 Medizin
Veröffentlichungsort: Mainz
ROR: https://ror.org/023b0x485
DOI: http://doi.org/10.25358/openscience-6309
Version: Published version
Publikationstyp: Zeitschriftenaufsatz
Nutzungsrechte: CC BY-NC
Informationen zu den Nutzungsrechten: https://creativecommons.org/licenses/by-nc/4.0/
Zeitschrift: American journal of medical genetics : Part A
182
5
Seitenzahl oder Artikelnummer: 1032
1040
Verlag: Wiley-Liss
Verlagsort: New York, NY
Erscheinungsdatum: 2020
ISSN: 1552-4833
URL der Originalveröffentlichung: https://doi.org/10.1002/ajmg.a.61516
DOI der Originalveröffentlichung: 10.1002/ajmg.a.61516
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