| 词条 | MECP2 duplication syndrome |
| 释义 |
| name = MECP2 duplication syndrome | synonyms = X-linked intellectual disability-hypotonia-recurrent Infections syndrome | image = File:Protein MECP2 PDB 1qk9.png | alt = | caption = This condition is due to MECP2 overexpression | pronounce = | field = Medical genetics | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} MECP2 Duplication Syndrome (M2DS) is a rare disease that is characterized by severe intellectual disability and impaired motor function. It is an X-linked genetic disorder caused by the overexpression of MeCP2 protein. Signs and symptomsSymptoms of M2DS include infantile hypotonia and failure to thrive, delayed psychomotor development, impaired speech, abnormal or absent gait, epilepsy, spasticity, gastrointestinal motility problems, recurrent infections, and genitourinary abnormalities.[1][2][3] Many of those affected by M2DS also fit diagnostic criteria for autism.[4] M2DS can be associated with syndromic facies, namely an abnormally flat back of the head, underdevelopment of the midface, ear anomalies, deep-set eyes, prominent chin, pointed nose, and a flat nasal bridge.[4] CauseM2DS is one of the several types of X-linked intellectual disability. The cause of M2DS is a duplication of the MECP2 or Methyl CpG binding protein 2 gene located on the X chromosome (Xq28).[4] The MeCP2 protein plays a pivotal role in regulating brain function. Increased levels of MECP2 protein results in abnormal neural function and impaired immune system.[4] Mutations in the MECP2 gene are also commonly associated with Rett syndrome in females. Advances in genetic testing and more widespread use of Array Comparative Genomic Hybridization has led to increased diagnosis of MECP2 duplication syndrome.[5] It is thought to represent ~1% of X-linked male mental disability cases.[9] Diagnosis{{Empty section|date=November 2017}}ManagementTreatment is supportive and based on symptoms.[4] EpidemiologyThe syndrome primarily affects young males.[6] Preliminary studies suggest that prevalence may be 1.8 per 10,000 live male births. 50% of those affected do not live beyond 25 years of age, with deaths attributed to the impaired immune function.[7] HistoryM2DS was first described in 1999.[8] In a Nature article published on November 25, 2015, it was revealed that researchers at the Baylor College of Medicine, led by Dr. Huda Y. Zoghbi, have reversed MECP2 Duplication Syndrome in adult symptomatic mice using antisense therapy.[9] Mice treated with an experimental ASO administered through the central nervous system had a reduction of MECP2 protein to normal levels and symptoms of hypoactivity, anxiety, and abnormal social behavior were resolved. Additionally, the seizure activity of the mice and abnormal EEG discharges were abolished. Initial studies demonstrated that reducing the MECP2 protein levels to the correct amount also normalized the expression of the other genes controlled by the MECP2 protein. References1. ^{{cite web|url=https://rarediseases.info.nih.gov/diseases/9781/mecp2-duplication-syndrome|title=MECP2 duplication syndrome - Genetic and Rare Diseases Information Center (GARD) – an NCATS Program|website=rarediseases.info.nih.gov}} 2. ^{{cite journal|last1=Ramocki|first1=Melissa B.|last2=Peters|first2=Sarika U.|last3=Tavyev|first3=Y. Jane|last4=Zhang|first4=Feng|last5=Carvalho|first5=Claudia M. B.|last6=Schaaf|first6=Christian P.|last7=Richman|first7=Ronald|last8=Fang|first8=Ping|last9=Glaze|first9=Daniel G.|last10=Lupski|first10=James R.|last11=Zoghbi|first11=Huda Y.|title=Autism and other neuropsychiatric symptoms are prevalent in individuals withMeCP2duplication syndrome|journal=Annals of Neurology|volume=66|issue=6|year=2009|pages=771–782|issn=0364-5134|doi=10.1002/ana.21715|pmid=20035514|pmc=2801873}} 3. ^{{cite journal|last1=Ramocki|first1=Melissa B.|last2=Tavyev|first2=Y. Jane|last3=Peters|first3=Sarika U.|title=TheMECP2duplication syndrome|journal=American Journal of Medical Genetics Part A|volume=152A|issue=5|year=2010|pages=1079–1088|issn=1552-4825|doi=10.1002/ajmg.a.33184|pmc=2861792}} 4. ^{{cite web|url=https://ghr.nlm.nih.gov/condition/mecp2-duplication-syndrome#genes|title=MECP2 duplication syndrome|first=Genetics Home|last=Reference|website=Genetics Home Reference}} 5. ^{{cite web|url=http://www.vanwrightfoundation.org/#what-is-mecp2|title=Van Wright Foundation|website=Van Wright Foundation}} 6. ^1 {{cite journal|last1=Van Esch|first1=H.|title=MECP2 Duplication Syndrome|journal=Molecular Syndromology|year=2011|issn=1661-8777|doi=10.1159/000329580|pmc=3366699}} 7. ^{{cite book|url=https://www.ncbi.nlm.nih.gov/books/NBK1284/|title=GeneReviews®|first=Hilde|last=Van Esch|editor-first1=Margaret P.|editor-last1=Adam|editor-first2=Holly H.|editor-last2=Ardinger|editor-first3=Roberta A.|editor-last3=Pagon|editor-first4=Stephanie E.|editor-last4=Wallace|editor-first5=Lora JH|editor-last5=Bean|editor-first6=Karen|editor-last6=Stephens|editor-first7=Anne|editor-last7=Amemiya|date=7 June 1993|publisher=University of Washington, Seattle|via=PubMed|pmid=20301461}} 8. ^1 2 3 4 {{cite web|url=https://rarediseases.org/rare-diseases/mecp2-duplication-syndrome/|title=MECP2 Duplication Syndrome - NORD (National Organization for Rare Disorders)|publisher=}} 9. ^{{cite journal|url=http://www.nature.com/nature/journal/vaop/ncurrent/full/nature16159.html|title=Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides|first1=Yehezkel|last1=Sztainberg|first2=Hong-mei|last2=Chen|first3=John W.|last3=Swann|first4=Shuang|last4=Hao|first5=Bin|last5=Tang|first6=Zhenyu|last6=Wu|first7=Jianrong|last7=Tang|first8=Ying-Wooi|last8=Wan|first9=Zhandong|last9=Liu|first10=Frank|last10=Rigo|first11=Huda Y.|last11=Zoghbi|date=25 November 2015|publisher=|journal=Nature|volume=528|issue=7580|doi=10.1038/nature16159|pmc=4839300}} Further reading
External links{{Medical resources| ICD10 = Q87.8 | ICD9 = | ICDO = | OMIM = 300260 | DiseasesDB = ddb34533 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeSH = C537723 | GeneReviewsNBK = | GeneReviewsName = | Orphanet = 85281 }} 4 : Gene expression|Chromosome instability syndromes|Autosomal duplications|Disorders causing seizures |
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