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

ABSTRACT:

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 prospectively, herein reporting baseline, 1 year follow-up and retrospective natural history.

Results

We present data on the CS phenotype with regard to physical growth and adaptive and motor regression across the lifespan including information on mortality. Longitudinal data on body weight and height were examined using a linear mixed model. T

SUBMITTER: Kavanaugh BC 

PROVIDER: S-EPMC11503119 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature