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 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.
Greenwood Genetic Center, Greenwood, South Carolina, USA. schroer@ggc.org
Richard J
RJ
Schroer
Kenton R
KR
Holden
Patrick S
PS
Tarpey
Maria Giselle
MG
Matheus
David A
DA
Griesemer
Michael J
MJ
Friez
Jane Zheng
JZ
Fan
Richard J
RJ
Simensen
Petter
P
Strømme
Roger E
RE
Stevenson
Michael R
MR
Stratton
Charles E
CE
Schwartz
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology*; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005133:Eye Movements; D005190:Family; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D007361:Intelligence Tests; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D011247:Pregnancy; D017923:Sodium-Hydrogen Exchangers / Q000235:genetics; D013577:Syndrome
C445316:SLC9A6 protein, human; D017923:Sodium-Hydrogen Exchangers