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Article

Christianson syndrome across the lifespan: genetic mutations and longitudinal study in children, adolescents, and adults.

Journal of medical genetics - 23 Oct 2024

Kavanaugh Brian C, Elacio Jennifer, Best Carrie R, St Pierre Danielle G, Pescosolido Matthew F, Ouyang Qing, Biedermann John, Bradley Rebecca S, Liu Judy S, Jones Richard N, Morrow Eric M

Abstract excerpt

OBJECTIVES: Mutations in the X-linked endosomal Na+/H+ exchanger 6 (NHE6) cause Christianson syndrome (CS). Here, in the largest study to date, we examine genetic diversity and clinical progression in CS into adulthood. METHOD: Data were collected as part of the International Christianson Syndrome and NHE6 (SLC9A6) Gene Network Study. 44 individuals with 31 unique NHE6 mutations, age 2-32 years, were followed...

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Identifiers

PMID: 39237363
DOI: 10.1136/jmg-2024-109973
PMCID: PMC11503119

Genes

CS
SLC9A6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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