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Article

Clinical and Molecular Genetic Analyses of a Girl With Isolated Nephrogenic Diabetes Insipidus due to Contiguous Gene Deletion Involving AVPR2 and L1CAM.

American journal of medical genetics. Part A - 1 Jun 2025

Saito Shoma, Suzuki Shigeru, Izumi Kengo, Kamiyama Takumi, Saito Kosuke, Yamamura Hinako, Kokumai Takahide, Furuya Akiko, Taketazu Genya, Makita Yoshio, Niida Yo, Takahashi Satoru

Abstract excerpt

Loss-of-function mutations of AVPR2 and L1CAM result in nephrogenic diabetes insipidus (NDI) and L1 syndrome. These diseases are inherited in an X-linked recessive manner. Females with heterozygous variants can be affected owing to skewed X-chromosome inactivation (XCI). A 3-year-old girl with normal development was presented with polydipsia and polyuria, and diagnosed of NDI through an improper response to water...

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Share to Child, Preschool
Share to Chromosomes, Human, X

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diabetes Insipidus, Nephrogenic

Share to Gene Deletion

Share to Neural Cell Adhesion Molecule L1

Share to Phenotype

Share to Receptors, Vasopressin

Share to X Chromosome Inactivation

Source

Identifiers

PMID: 39992048
DOI: 10.1002/ajmg.a.64024

Genes

AVPR2
L1CAM
AQP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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