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MECP2 duplication syndrome(MRXSL)

MedGen UID:
337496
Concept ID:
C1846058
Disease or Syndrome; Mental or Behavioral Dysfunction
Synonyms: Lubs X-linked mental retardation syndrome; Mental retardation, X-linked, Lubs type; MENTAL RETARDATION, X-LINKED, SYNDROMIC, LUBS TYPE; MENTAL RETARDATION, X-LINKED, WITH RECURRENT RESPIRATORY INFECTIONS; MRXSL; XLMR syndrome, Lubs type
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
X-linked recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Methyl-CpG (cytosine phosphate guanine) binding protein-2 duplication syndrome (702816000); MECP2 duplication syndrome (702816000); Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (702816000); Lubs X-linked mental retardation syndrome (702816000)
 
Gene (location): MECP2 (Xq28)
OMIM®: 300260
Orphanet: ORPHA1762

Disease characteristics

Excerpted from the GeneReview: MECP2 Duplication Syndrome
The MECP2 duplication syndrome is a severe neurodevelopmental disorder characterized by infantile hypotonia, delayed psychomotor development leading to severe intellectual disability, poor speech development, progressive spasticity, recurrent respiratory infections (in ~75% of affected individuals) and seizures (in ~50%). MECP2 duplication syndrome is 100% penetrant in males. Occasionally females have been described with a MECP2 duplication and related clinical findings, often associated with concomitant X-chromosomal abnormalities that prevent inactivation of the duplicated region. Generalized tonic-clonic seizures are most often observed; atonic seizures and absence seizures have also been described. One third of affected males are never able to walk independently. Almost 50% of affected males die before age 25 years, presumably from complications of recurrent infection and/or neurologic deterioration. In addition to the core features, autistic behaviors and gastrointestinal dysfunction have been observed in several affected boys. Although interfamilial phenotypic variability is observed, severity is usually consistent within families.  [from GeneReviews]
Authors:
Hilde Van Esch   view full author information

Additional descriptions

From OMIM
MECP2 duplication syndrome is an X-linked neurodevelopmental disorder characterized by severe to profound mental retardation, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections. Only males are affected, although female carriers may have some mild neuropsychiatric features, such as anxiety. Submicroscopic Xq28 duplications encompassing MECP2 are considered nonrecurrent events, because the breakpoint locations and rearrangement sizes vary among affected individuals (summary by Ramocki et al., 2010).  http://www.omim.org/entry/300260
From GHR
MECP2 duplication syndrome is a condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Most people with this condition also have weak muscle tone in infancy, feeding difficulties, poor or absent speech, seizures that may not improve with treatment, or muscle stiffness (spasticity). Individuals with MECP2 duplication syndrome have delayed development of motor skills such as sitting and walking. Some affected individuals experience the loss of previously acquired skills (developmental regression). Approximately one third of people with this condition cannot walk without assistance. Many individuals with MECP2 duplication syndrome have recurrent respiratory tract infections. These respiratory infections are a major cause of death in affected individuals, with almost half succumbing by age 25.  https://ghr.nlm.nih.gov/condition/mecp2-duplication-syndrome

Clinical features

Growth delay
MedGen UID:
765377
Concept ID:
C3552463
Finding
A deficiency or slowing down of growth pre- and postnatally.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
If you have a swallowing disorder, you may have difficulty or pain when swallowing. Some people cannot swallow at all. Others may have trouble swallowing liquids, foods, or saliva. This makes it hard to eat. Often, it can be difficult to take in enough calories and fluids to nourish your body. Anyone can have a swallowing disorder, but it is more likely in the elderly. It often happens because of other conditions, including. - Nervous system disorders, such as Parkinson's disease and cerebral palsy. - Problems with your esophagus, including GERD (gastroesophageal reflux disease). - Stroke. - Head or spinal cord injury. - Cancer of the head, neck, or esophagus. Medicines can help some people, while others may need surgery. Swallowing treatment with a speech-language pathologist can help. You may find it helpful to change your diet or hold your head or neck in a certain way when you eat. In very serious cases, people may need feeding tubes. NIH: National Institute on Deafness and Other Communication Disorders.
Gastroesophageal reflux disease
MedGen UID:
6553
Concept ID:
C0017168
Disease or Syndrome
Gastroesophageal reflux (GER) is characterized by the retrograde movement of stomach contents into the esophagus. In its most severe form, GER results in extensive tissue damage caused by acid reflux. In adolescents and adults, and even infrequently in children, chronic GER is associated with the risk of developing Barrett metaplasia (614266), a premalignant lesion of the esophageal mucosa (Hu et al., 2000). In turn, Barrett metaplasia is correlated with the development of adenocarcinoma of the esophagus (see 614266), estimated as the fifth most prevalent neoplasia in the Western world (Lagergren et al., 1999).
Pain associated with defecation
MedGen UID:
68641
Concept ID:
C0237326
Sign or Symptom
Infrequent or difficult evacuation of feces.
Anxiety
MedGen UID:
1613
Concept ID:
C0003467
Finding
Fear and anxiety are part of life. You may feel anxious before you take a test or walk down a dark street. This kind of anxiety is useful - it can make you more alert or careful. It usually ends soon after you are out of the situation that caused it. But for millions of people in the United States, the anxiety does not go away, and gets worse over time. They may have chest pains or nightmares. They may even be afraid to leave home. These people have anxiety disorders. Types include. -Panic disorder . -Obsessive-compulsive disorder . -Post-traumatic stress disorder . -Phobias . -Generalized anxiety disorder . Treatment can involve medicines, therapy or both. NIH: National Institute of Mental Health .
Bruxism
MedGen UID:
676
Concept ID:
C0006325
Pathologic Function
Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep.
Chorea
MedGen UID:
3420
Concept ID:
C0008489
Disease or Syndrome
Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
If you have a swallowing disorder, you may have difficulty or pain when swallowing. Some people cannot swallow at all. Others may have trouble swallowing liquids, foods, or saliva. This makes it hard to eat. Often, it can be difficult to take in enough calories and fluids to nourish your body. Anyone can have a swallowing disorder, but it is more likely in the elderly. It often happens because of other conditions, including. - Nervous system disorders, such as Parkinson's disease and cerebral palsy. - Problems with your esophagus, including GERD (gastroesophageal reflux disease). - Stroke. - Head or spinal cord injury. - Cancer of the head, neck, or esophagus. Medicines can help some people, while others may need surgery. Swallowing treatment with a speech-language pathologist can help. You may find it helpful to change your diet or hold your head or neck in a certain way when you eat. In very serious cases, people may need feeding tubes. NIH: National Institute on Deafness and Other Communication Disorders.
Depression
MedGen UID:
4229
Concept ID:
C0011581
Mental or Behavioral Dysfunction
Depression is a serious medical illness that involves the brain. It's more than just a feeling of being "down in the dumps" or "blue" for a few days. If you are one of the more than 20 million people in the United States who have depression, the feelings do not go away. They persist and interfere with your everyday life. Symptoms can include : -Sadness. -Loss of interest or pleasure in activities you used to enjoy. -Change in weight. -Difficulty sleeping or oversleeping. -Energy loss. -Feelings of worthlessness. -Thoughts of death or suicide. Depression is a disorder of the brain. There are a variety of causes, including genetic, environmental, psychological, and biochemical factors. Depression usually starts between the ages of 15 and 30, and is much more common in women. Women can also get postpartum depression after the birth of a baby. Some people get seasonal affective disorder in the winter. Depression is one part of bipolar disorder. There are effective treatments for depression, including antidepressants and talk therapy. Most people do best by using both. . NIH: National Institute of Mental Health.
Dribbling from mouth
MedGen UID:
8484
Concept ID:
C0013132
Sign or Symptom
Habitual flow of saliva out of the mouth.
Seizure Disorders
MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. People may have strange sensations and emotions or behave strangely. They may have violent muscle spasms or lose consciousness. Epilepsy has many possible causes, including illness, brain injury, and abnormal brain development. In many cases, the cause is unknown. Doctors use brain scans and other tests to diagnose epilepsy. It is important to start treatment right away. There is no cure for epilepsy, but medicines can control seizures for most people. When medicines are not working well, surgery or implanted devices such as vagus nerve stimulators may help. Special diets can help some children with epilepsy. NIH: National Institute of Neurological Disorders and Stroke.
Microcephalus
MedGen UID:
44422
Concept ID:
C0025958
Congenital Abnormality
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Poor eye contact
MedGen UID:
303190
Concept ID:
C1445953
Finding
Difficulty in looking at another person in the eye.
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Facial hypotonia
MedGen UID:
336889
Concept ID:
C1845251
Finding
Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve).
Progressive spasticity
MedGen UID:
347171
Concept ID:
C1859520
Finding
Spasticity that increases in degree with time.
Infantile muscular hypotonia
MedGen UID:
395993
Concept ID:
C1860834
Finding
Muscular hypotonia (abnormally low muscle tone) manifesting in infancy.
Recurrent respiratory infections
MedGen UID:
812812
Concept ID:
C3806482
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMECP2 duplication syndrome

Recent clinical studies

Etiology

Liu Z, Li X, Zhang JT, Cai YJ, Cheng TL, Cheng C, Wang Y, Zhang CC, Nie YH, Chen ZF, Bian WJ, Zhang L, Xiao J, Lu B, Zhang YF, Zhang XD, Sang X, Wu JJ, Xu X, Xiong ZQ, Zhang F, Yu X, Gong N, Zhou WH, Sun Q, Qiu Z
Nature 2016 Feb 4;530(7588):98-102. Epub 2016 Jan 25 doi: 10.1038/nature16533. PMID: 26808898
Zhang Q, Zhao Y, Yang Y, Bao X
BMC Med Genet 2015 Dec 16;16:112. doi: 10.1186/s12881-015-0264-0. PMID: 26672597Free PMC Article
Bauer M, Kölsch U, Krüger R, Unterwalder N, Hameister K, Kaiser FM, Vignoli A, Rossi R, Botella MP, Budisteanu M, Rosello M, Orellana C, Tejada MI, Papuc SM, Patat O, Julia S, Touraine R, Gomes T, Wenner K, Xu X, Afenjar A, Toutain A, Philip N, Jezela-Stanek A, Gortner L, Martinez F, Echenne B, Wahn V, Meisel C, Wieczorek D, El-Chehadeh S, Van Esch H, von Bernuth H
J Clin Immunol 2015 Feb;35(2):168-81. Epub 2015 Feb 27 doi: 10.1007/s10875-015-0129-5. PMID: 25721700
Caumes R, Boespflug-Tanguy O, Villeneuve N, Lambert L, Delanoe C, Leheup B, Bahi-Buisson N, Auvin S
Eur J Paediatr Neurol 2014 Jul;18(4):475-81. Epub 2014 Mar 26 doi: 10.1016/j.ejpn.2014.03.005. PMID: 24703762
Peters SU, Hundley RJ, Wilson AK, Warren Z, Vehorn A, Carvalho CM, Lupski JR, Ramocki MB
Autism Res 2013 Feb;6(1):42-50. Epub 2012 Nov 20 doi: 10.1002/aur.1262. PMID: 23169761Free PMC Article

Diagnosis

Trobaugh-Lotrario A, Martin J, López-Terrada D
Am J Med Genet A 2016 Mar;170(3):790-1. Epub 2015 Nov 24 doi: 10.1002/ajmg.a.37474. PMID: 26602209
Bauer M, Kölsch U, Krüger R, Unterwalder N, Hameister K, Kaiser FM, Vignoli A, Rossi R, Botella MP, Budisteanu M, Rosello M, Orellana C, Tejada MI, Papuc SM, Patat O, Julia S, Touraine R, Gomes T, Wenner K, Xu X, Afenjar A, Toutain A, Philip N, Jezela-Stanek A, Gortner L, Martinez F, Echenne B, Wahn V, Meisel C, Wieczorek D, El-Chehadeh S, Van Esch H, von Bernuth H
J Clin Immunol 2015 Feb;35(2):168-81. Epub 2015 Feb 27 doi: 10.1007/s10875-015-0129-5. PMID: 25721700
Peters SU, Hundley RJ, Wilson AK, Carvalho CM, Lupski JR, Ramocki MB
J Autism Dev Disord 2013 Oct;43(10):2484-90. doi: 10.1007/s10803-013-1796-9. PMID: 23456562
Shimada S, Okamoto N, Ito M, Arai Y, Momosaki K, Togawa M, Maegaki Y, Sugawara M, Shimojima K, Osawa M, Yamamoto T
Brain Dev 2013 May;35(5):411-9. Epub 2012 Aug 9 doi: 10.1016/j.braindev.2012.07.010. PMID: 22877836
Vignoli A, Borgatti R, Peron A, Zucca C, Ballarati L, Bonaglia C, Bellini M, Giordano L, Romaniello R, Bedeschi MF, Epifanio R, Russo S, Caselli R, Giardino D, Darra F, La Briola F, Banderali G, Canevini MP
Epilepsia 2012 Jul;53(7):1146-55. Epub 2012 May 11 doi: 10.1111/j.1528-1167.2012.03501.x. PMID: 22578097

Therapy

Fu F, Liu HL, Li R, Han J, Yang X, Min P, Zhen L, Zhang YL, Xie GE, Lei TY, Li Y, Li J, Li DZ, Liao C
Gene 2014 Aug 10;546(2):222-5. Epub 2014 Jun 7 doi: 10.1016/j.gene.2014.06.012. PMID: 24914495
Shimada S, Okamoto N, Ito M, Arai Y, Momosaki K, Togawa M, Maegaki Y, Sugawara M, Shimojima K, Osawa M, Yamamoto T
Brain Dev 2013 May;35(5):411-9. Epub 2012 Aug 9 doi: 10.1016/j.braindev.2012.07.010. PMID: 22877836
Mayo S, Monfort S, Roselló M, Orellana C, Oltra S, Armstrong J, Català V, Martínez F
Cytogenet Genome Res 2011;135(2):93-101. Epub 2011 Sep 16 doi: 10.1159/000330917. PMID: 21934280

Prognosis

Beck CR, Carvalho CM, Banser L, Gambin T, Stubbolo D, Yuan B, Sperle K, McCahan SM, Henneke M, Seeman P, Garbern JY, Hobson GM, Lupski JR
PLoS Genet 2015 Mar 6;11(3):e1005050. doi: 10.1371/journal.pgen.1005050. PMID: 25749076Free PMC Article
Peters SU, Hundley RJ, Wilson AK, Warren Z, Vehorn A, Carvalho CM, Lupski JR, Ramocki MB
Autism Res 2013 Feb;6(1):42-50. Epub 2012 Nov 20 doi: 10.1002/aur.1262. PMID: 23169761Free PMC Article
Honda S, Hayashi S, Nakane T, Imoto I, Kurosawa K, Mizuno S, Okamoto N, Kato M, Yoshihashi H, Kubota T, Nakagawa E, Goto Y, Inazawa J
Am J Med Genet A 2012 Jun;158A(6):1292-303. Epub 2012 Apr 23 doi: 10.1002/ajmg.a.35321. PMID: 22528406
Tang SS, Fernandez D, Lazarou LP, Singh R, Fallon P
Eur J Paediatr Neurol 2012 Mar;16(2):209-12. Epub 2011 Aug 6 doi: 10.1016/j.ejpn.2011.07.011. PMID: 21821449
McWilliam C, Cooke A, Lobo D, Warner J, Taylor M, Tolmie JL
Eur J Paediatr Neurol 2010 May;14(3):267-9. Epub 2009 Jul 9 doi: 10.1016/j.ejpn.2009.06.007. PMID: 19592282

Clinical prediction guides

Signorini C, De Felice C, Leoncini S, Møller RS, Zollo G, Buoni S, Cortelazzo A, Guerranti R, Durand T, Ciccoli L, D'Esposito M, Ravn K, Hayek J
PLoS One 2016 Mar 1;11(3):e0150101. doi: 10.1371/journal.pone.0150101. PMID: 26930212Free PMC Article
Peters SU, Hundley RJ, Wilson AK, Warren Z, Vehorn A, Carvalho CM, Lupski JR, Ramocki MB
Autism Res 2013 Feb;6(1):42-50. Epub 2012 Nov 20 doi: 10.1002/aur.1262. PMID: 23169761Free PMC Article
Vignoli A, Borgatti R, Peron A, Zucca C, Ballarati L, Bonaglia C, Bellini M, Giordano L, Romaniello R, Bedeschi MF, Epifanio R, Russo S, Caselli R, Giardino D, Darra F, La Briola F, Banderali G, Canevini MP
Epilepsia 2012 Jul;53(7):1146-55. Epub 2012 May 11 doi: 10.1111/j.1528-1167.2012.03501.x. PMID: 22578097
Honda S, Hayashi S, Nakane T, Imoto I, Kurosawa K, Mizuno S, Okamoto N, Kato M, Yoshihashi H, Kubota T, Nakagawa E, Goto Y, Inazawa J
Am J Med Genet A 2012 Jun;158A(6):1292-303. Epub 2012 Apr 23 doi: 10.1002/ajmg.a.35321. PMID: 22528406
Ramocki MB, Peters SU, Tavyev YJ, Zhang F, Carvalho CM, Schaaf CP, Richman R, Fang P, Glaze DG, Lupski JR, Zoghbi HY
Ann Neurol 2009 Dec;66(6):771-82. doi: 10.1002/ana.21715. PMID: 20035514Free PMC Article

Recent systematic reviews

Lombardi LM, Baker SA, Zoghbi HY
J Clin Invest 2015 Aug 3;125(8):2914-23. doi: 10.1172/JCI78167. PMID: 26237041Free PMC Article

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