期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 152A, 期 11, 页码 2775-2783出版社
WILEY-LISS
DOI: 10.1002/ajmg.a.33093
关键词
X-linked; intellectual disability; SLC9A6; sodium/hydrogen exchanger; Christianson syndrome
资金
- NICHD NIH HHS [R01 HD026202] Funding Source: Medline
- NIMH NIH HHS [R24 MH057840] Funding Source: Medline
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. (C) 2010 Wiley-Liss, Inc.
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