Natural history of Christianson syndrome

Christianson syndrome is an X‐linked mental retardation syndrome characterized by microcephaly, impaired ocular movement, severe global developmental delay, hypotonia which progresses to spasticity, and early onset seizures of variable types. Gilfillan et al.2008] reported mutations in SLC9A6, the g...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2010-11, Vol.152A (11), p.2775-2783
Main Authors: Schroer, Richard J., Holden, Kenton R., Tarpey, Patrick S., Matheus, Maria Giselle, Griesemer, David A., Friez, Michael J., Fan, Jane Zheng, Simensen, Richard J., Strømme, Petter, Stevenson, Roger E., Stratton, Michael R., Schwartz, Charles E.
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Abnormalities, Multiple - pathology
Adult
Adult and adolescent clinical studies
Biological and medical sciences
Child
Child, Preschool
Christianson syndrome
Eye Movements
Family
Fatal Outcome
Female
Humans
Infant
Intellectual deficiency
intellectual disability
Intelligence Tests
Magnetic Resonance Imaging
Male
Medical genetics
Medical sciences
Mutation - genetics
Pedigree
Pregnancy
Psychology. Psychoanalysis. Psychiatry
Psychopathology. Psychiatry
SLC9A6
Sodium-Hydrogen Exchangers - genetics
sodium/hydrogen exchanger
Syndrome
X‐linked
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Summary:Christianson syndrome is an X‐linked mental retardation syndrome characterized by microcephaly, impaired ocular movement, severe global developmental delay, hypotonia which progresses to spasticity, and early onset seizures of variable types. Gilfillan et al.2008] reported mutations in SLC9A6, the gene encoding the sodium/hydrogen exchanger NHE6, in the family first reported and in three others. They also noted the clinical similarities to Angelman syndrome and found cerebellar atrophy on MRI and elevated glutamate/glutamine in the basal ganglia on MRS. Here we report on nonsense mutations in two additional families. The natural history is detailed in childhood and adult life, the similarities to Angelman syndrome confirmed, and the MRI/MRS findings documented in three affected boys. © 2010 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
1552-4833
DOI:10.1002/ajmg.a.33093