- 【Updated on May 12, 2025】 Integration of CiNii Dissertations and CiNii Books into CiNii Research
- Trial version of CiNii Research Knowledge Graph Search feature is available on CiNii Labs
- 【Updated on June 30, 2025】Suspension and deletion of data provided by Nikkei BP
- Regarding the recording of “Research Data” and “Evidence Data”
A loss‐of‐function mutation in the <i>SLC9A6</i> gene causes X‐linked mental retardation resembling Angelman syndrome
Search this article
Description
<jats:title>Abstract</jats:title><jats:p><jats:italic>SLC9A6</jats:italic> mutations have been reported in families in whom X‐linked mental retardation (XMR) mimics Angelman syndrome (AS). However, the relative importance of <jats:italic>SLC9A6</jats:italic> mutations in patients with an AS‐like phenotype or XMR has not been fully investigated. Here, the involvement of <jats:italic>SLC9A6</jats:italic> mutations in 22 males initially suspected to have AS but found on genetic testing not to have AS (AS‐like cohort), and 104 male patients with XMR (XMR cohort), was investigated. A novel <jats:italic>SLC9A6</jats:italic> mutation (c.441delG, p.S147fs) was identified in one patient in the AS‐like cohort, but no mutation was identified in XMR cohort, suggesting mutations in <jats:italic>SLC9A6</jats:italic> are not a major cause of the AS‐like phenotype or XMR. The patient with the <jats:italic>SLC9A6</jats:italic> mutation showed the typical AS phenotype, further demonstrating the similarity between patients with AS and those with <jats:italic>SLC9A6</jats:italic> mutations. To clarify the effect of the <jats:italic>SLC9A6</jats:italic> mutation, we performed RT‐PCR and Western blot analysis on lymphoblastoid cells from the patient. Expression of the mutated transcript was significantly reduced, but was restored by cycloheximide treatment, indicating the presence of nonsense mediated mRNA decay. Western blot analysis demonstrated absence of the normal NHE6 protein encoded for by <jats:italic>SLC9A6</jats:italic>. Taken together, these findings indicate a loss‐of‐function mutation in <jats:italic>SLC9A6</jats:italic> caused the phenotype in our patient. © 2011 Wiley‐Liss, Inc.</jats:p>
Journal
-
- American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
-
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 156 (7), 799-807, 2011-08-02
Wiley
- Tweet
Keywords
- Male
- Sodium-Hydrogen Exchangers
- Base Sequence
- Genome, Human
- Reverse Transcriptase Polymerase Chain Reaction
- DNA Mutational Analysis
- Molecular Sequence Data
- Down-Regulation
- Cell Line
- Nonsense Mediated mRNA Decay
- Mutation
- Mental Retardation, X-Linked
- Humans
- Mutant Proteins
- Amino Acid Sequence
- RNA, Messenger
- Angelman Syndrome
Details 詳細情報について
-
- CRID
- 1360285704870270464
-
- ISSN
- 1552485X
- 15524841
-
- PubMed
- 21812100
-
- Article Type
- journal article
-
- Data Source
-
- Crossref
- KAKEN
- OpenAIRE