Affected individuals may develop recurrent pneumonia that is sometimes severe requiring mechanical ventilation. Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome. Diagnosis/testing: Für männliche Betroffene wird eine 100 %ige 疾患の特徴 MECP2重複症候群は重度の神経発達障害であり、乳児期の筋緊張低下や精神運動発達の遅れによる重度の知的障害, 言語発達の乏しさ, 進行性の痙縮, 繰り返す呼吸器感染 (～75%の患者で起こる)、痙攣発作(～50%)の症状を特徴とする。MECP2重複症候群の浸透率は男児では100%である。MECP2の重複を持つ女児ではときどき関連のある症状を起こすことがあり、重複領域の不活化を阻害するX染色体の異常を持っている場合が多い。全身性の強直間代発作は頻度が高いが、脱力発作と欠神発作が認 … Boys In most affected individuals, the MECP2 duplication is inherited in an X-linked manner; in rare cases, the duplication may occur randomly for no apparent reason (de novo duplication). https://rarediseases.org/rare-diseases/mecp2-duplication-syndrome. Clipboard, Search History, and several other advanced features are temporarily unavailable. Smith ACM, Boyd KE, Brennan C, Charles J, Elsea SH, Finucane BM, Foster R, Gropman A, Girirajan S, Haas-Givler B. The diagnosis of int22h1/int22h2-mediated Xq28 duplication in a hemizygous male or a heterozygous female is established by detection of a 0.5-Mb duplication within the q28 region of the X chromosome extending between 154.1 Mb and 154.6 Mb in the reference genome (NCBI Build GRCh37/hg19). FOIA Although this skewed X-inactivation ensures that the chromosome with the normal MECP2 gene is active most often, some of these females develop behavioral and psychiatric symptoms thought to be related to the additional genetic material. The prevalence of MECP2 duplication syndrome is unknown; more than 200 affected individuals have been described in the scientific literature. Affected males may experience failure of the testes to descend (cryptorchidism) and have the urinary opening located on the underside of the penis (hypospadias) rather than at the end. In females (who have two X chromosomes), a duplication of one of the two copies of the gene typically does not cause the disorder, but can be associated with behavioral and psychiatric symptoms such as depression, anxiety, and features of autism spectrum disorder that affect communication and social interaction. In most affected Additional therapies for MECP2 duplication syndrome depend upon the specific abnormalities present and generally follow standard guidelines. Further delineation of the MECP2 duplication syndrome phenotype in 59 The Xq28 duplication involving the MECP2 gene ( MECP2 duplication) has been mainly described in male patients with severe developmental delay (DD) associated with spasticity, stereotypic movements and recurrent infections. Drugs may be used to treat a variety of symptoms associated with MECP2 duplication syndrome. additional genes around the MECP2 gene may also be duplicated). This test can detect the gain or loss of chromosomal material including microduplications. Distinctive head or facial features, such as brachycephaly (abnormally flat back of the head), midface hypoplasia (underdevelopment of the middle of the face), large ears, deep-set eyes, prominent chin, and a depressed nasal bridge. There are a variety of tests that can be used to diagnose MECP2 duplication syndrome including array comparative genomic hybridization (array-CGH). This region includes the MECP2 gene and typically several adjacent genes. Affected individuals often have clinically significant constipation. In most cases, MECP2 duplication syndrome is inherited from a mother who carries the duplication but has no symptoms. }); Can a person with MECP2 duplication syndrome have microcephaly? gene may also be duplicated). For example, babies who have trouble swallowing and/or feeding difficulties may require a feeding tube. Some children who lose skills are able to re-learn them with intensive therapy. [1] The band contains three distinct regions, totaling about 8 Mbp of genetic information. GeneReviews. Here, we present 2 cases of boys with MECP2 duplication syndrome. 8600 Rockville Pike Children with MECP2 duplication have moderate to severe intellectual disability and experience delays in attaining developmental milestones including sitting and crawling. Researchers believe that this protein has several functions, including regulating other genes in the brain by controlling when they are able to participate in protein production. Sometimes X-inactivation is not random, and one X chromosome is active in more than half of cells. MECP2 duplication syndrome is caused by the duplication of genetic material on a specific region on the X chromosome (Xq28). Privacy, Help MECP2 duplication syndrome is caused by the duplication of genetic material on a specific region on the X chromosome (Xq28). Miguet M, et al. MECP2 duplication syndrome is caused by the duplication of genetic material on a specific region on the X chromosome (Xq28). It is unclear whether extra copies of these other genes affect the severity of the condition. These neuronal changes disrupt normal brain activity, causing the signs and symptoms of MECP2 duplication syndrome. Around 40% of people with MECP2 duplication syndrome have microcephaly 5). Seizure types that have been reported in individuals with MECP2 duplication syndrome include head/neck and trunk drop attacks, absence seizures, myoclonic seizures, and generalized or secondarily generalized tonic-clonic or simply tonic seizures (once known as grand mal seizures). Treatment options that may be used to treat individuals with MECP2 duplication syndrome are complex and varied. Although researchers have been able to establish a clear syndrome with characteristic or “core” symptoms, much about the disorder is not fully understood. In some individuals, seizures may not respond to treatment (refractory) and the onset and severity of seizures may correlate with neurological deterioration (e.g. In contrast, females who inherit the duplication will be heterozygous and thus, will either exhibit a milder phenotype or be clinically unaffected. Affected children may also experience difficulty swallowing, gastroesophageal reflux and excessive drooling. Spasticity can be associated with muscle spasms, increased deep tendon reflexes, and fixed joints (contractures). The duplicated section, which always includes the MECP2 and IRAK1 genes, varies from individual to individual and may contribute to the severity of the disease. Some individuals may be able to speak a few words during early childhood or have a limited use of speech, but frequently this ability is progressively lost during adolescence. All males reported to date with the syndrome have moderate-to-severe intellectual disability; in contrast, a minority of heterozygous females have been reported to have mild intellectual disability, while the majority have no discernible health or learning issues and are considered clinically unaffected. Pre-implantation genetic diagnosis (PGD) may be an option when a parent has a known genetic abnormality (i.e. Peters SU, et al. MECP2 is just one of the many genes that lie within the Xq28 segment of the X chromosome. Most affected individuals inherited the duplication from their heterozygous and often asymptomatic mother. Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features. In addition, recent reports have identified women (i.e., women with unfavorable X-linked inactivation) who developed some symptoms of the disorder including recurrent infections, poor speech development, or seizures.Rarely, females may have a genetic abnormality, known as a translocation, which involves the X chromosome and a non-sex chromosome (autosome). Some boys have underdeveloped (hypoplastic) genitalia. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. understanding what is said to them). In these cases, MeCP2 overexpression is greater and the associated symptoms have been more severe. Needing assistance to walk or inability to walk. The duplication can also arise from an unbalanced translocation involving the X chromosome (and the MECP2 gene) 7). MECP2 duplication syndrome Other names X-linked intellectual disability-hypotonia-recurrent Infections syndrome This condition is due to MECP2 overexpression MECP2 duplication syndrome (M2DS) is a rare disease that is characterized by severe intellectual disability and impaired motor function. When X-inactivation does not occur randomly, it is called skewed X-inactivation. It should be included in the differential diagnosis of male infants with hypotonia. Many individuals with MECP2 duplication syndrome meet formal criteria for diagnosis with an autism spectrum disorder due to poor expressive language skills, abnormal social affect, and restricted/repetitive behaviors. Affected children will often fail to gain weight or grow at the expected rate for age and gender (failure to thrive) and may be at risk of aspiration, however, some infants experience no recognized problems in the newborn (neonatal) period and concern is not raised until other developmental milestones are missed. When this happens, it is called a de novo duplication 6). In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. More research is necessary to determine the specific pathogens that affect individuals with MECP2 duplication syndrome and how to best treat the abnormal immune system. Int22h1/Int22h2‐mediated Xq28 duplication syndrome is a relatively new X‐linked intellectual disability syndrome, arising from duplications of … Further delineation of the MECP2 duplication syndrome phenotype in 59 https://ghr.nlm.nih.gov/condition/mecp2-duplication-syndrome, LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL https://www.omim.org/entry/300260, MECP2 Duplication Syndrome. The long-term outlook (prognosis) for people with MECP2 duplication syndrome varies. Ultimately, normal nutritional requirements cannot be met leading to unintended weight loss and malnourishment. (adsbygoogle = window.adsbygoogle || []).push({}); (adsbygoogle = window.adsbygoogle || []).push({ Most affected children will benefit from occupational, physical and speech therapy. The acute onset of GI symptoms such as abdominal pain, unusual distension, or vomiting warrants urgent medical evaluation as it can precede life-threatening complications. Additional tests that can confirm CGH results or for direct clinical testing include polymerase chain reaction (PCR), fluorescent is situ hybridization (FISH) analysis, chromosome microarray SNP analysis, and multiplex ligation-dependent probe amplification (MLPA). Several factors including the small number of identified patients, the lack of large clinical studies, and the possibility of other genes influencing the disorder hamper physicians from developing a complete picture of associated symptoms and prognosis. Chromosome microarray SNP analysis uses probes that can detect chromosomal abnormalities including microduplications, including those that are the underlying cause of many cases of MECP2 duplication syndrome. The MLPA test is a relatively new method for assessing chromosomes and can detect certain chromosomal abnormalities including those associated with MECP2 duplication syndrome. Resources for locating a genetics professional in your community are available online: MECP2 duplication syndrome is characterized by a wide variety of symptoms. Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome. Background Well known for its gene density and the large number of mapped diseases, the human sub-chromosomal region Xq28 has long been a focus of genome research. Low tone, gastrointestinal reflux and swallowing dysfunction may additionally predispose to recurrent respiratory tract infections and pneumonias. Recurrent respiratory infections (in about 75% of people). Some general therapies common for infants or children include monitoring feeding and swallowing difficulties. Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability. Miguet M, et al. Treatment may require the coordinated efforts of a team of specialists. Recurrent infections, especially respiratory infections, can be severe enough to necessitate hospitalization and require assisted (mechanical) ventilation. Malformations do not contribute significantly to the morbidity associated with this syndrome, but early death (before 25 years of age) has been reported in 55% of patients with a MECP2 duplication and a few cases of death during It enables researchers to enlarge and repeatedly copy sequences of DNA. Please enable it to take advantage of the complete set of features! MECP2 duplication syndrome is 100% penetrant in males, but females who carry the duplication on one X chromosome (heterozygotes) may exhibit some signs of the disorder. the 46 chromosomes in a cell). Inclusion of novel augmentative communication devices, such as eye-tracking technology based communication devices, in the therapy regimen are encouraged. Ballout RA, Dickerson C, Wick MJ, Al-Sweel N, Openshaw AS, Srivastava S, Swanson LC, Bramswig NC, Kuechler A, Hong B, Fleming LR, Curry K, Robertson SP, Andersen EF, El-Hattab AW. The int22h1/int22h2-mediated Xq28 duplication syndrome is an X-linked intellectual disability syndrome characterized by variable degrees of cognitive impairment (typically more severe in males), a wide spectrum of neurobehavioral abnormalities, and variable facial dysmorphic features. In these cases it may occur randomly during the formation of the egg or sperm, or shortly after the egg and sperm join together. GeneReviews. Clinical characteristics: Peters SU, et al. MECP2 duplication syndrome is caused by a genetic change in which there is an an extra copy (duplication) of the methyl-CpG-binding protein 2 (MECP2) gene in each cell. MECP2 Duplication Syndrome Unlike Rett Syndrome, which is caused by mutations or deletions in the MECP2 gene, the symptoms that arise from the duplication syndrome are caused, as the name suggests, by having an area of the X chromosome (Xq28), which includes the MECP2 gene, erroneously duplicated. Hum Mutat. It is estimated that MECP2 duplication syndrome is responsible for 1 to 2 percent of all cases of intellectual disability caused by changes in the X chromosome 3). Clin Genet 2019;95:575-581. -, Ballout RA, Dickerson C, Wick MJ, Al-Sweel N, Openshaw AS, Srivastava S, Swanson LC, Bramswig NC, Kuechler A, Hong B, Fleming LR, Curry K, Robertson SP, Andersen EF, El-Hattab AW. Surveillance: Measurement of growth parameters and assessment of neurodevelopmental progress, cognitive abilities, behavioral/psychiatric symptoms, and motor functioning at each visit; reassessment of special education needs annually in childhood and adolescence; routine follow up with orthopedist for those with contractures and/or kyphoscoliosis; pulmonary function testing as clinically indicated for those with severe asthma; at least annual audiologic and ophthalmologic evaluations. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features.
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