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.
Schroer
Richard J
RJ
Greenwood Genetic Center, Greenwood, South Carolina, USA. schroer@ggc.org
Holden
Kenton R
KR
Tarpey
Patrick S
PS
Matheus
Maria Giselle
MG
Griesemer
David A
DA
Friez
Michael J
MJ
Fan
Jane Zheng
JZ
Simensen
Richard J
RJ
Strømme
Petter
P
Stevenson
Roger E
RE
Stratton
Michael R
MR
Schwartz
Charles E
CE
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