microduplication syndrome symptoms

However, there is no particular pattern of physical abnormalities that characterizes 1q21.1 microduplications. MLPA of subtelomeric regions was normal too. Specialized genetic testing techniques are often required to confirm the diagnosis. Child Lang Teach Ther. The duplication occurs on the long (q) arm of the chromosome at a position designated q29.\n\nThe features associated with 3q29 microduplication syndrome vary widely. Dez-Itza E, Martnez V, Prez V, Fernndez-Urquiza M. (2018). 32 in a Patient with Moyamoya Syndrome. Table 1. The boy usually paid attention to others and was able to express his own feelings toward them and about himself. Microduplication of 15q13. Cause: This is caused by changes in the way information is arranged into chromosomes. The obtained scores were suggestive of a deep impairment of language and executive functions (in all the assessed domains the scores corresponded to percentiles 12) (Figure 1C). The treatment measures for Chromosome 15q13.3 Microduplication Syndrome may involve: Regular medical screening at periodic intervals with tests and physical examinations are necessary and highly recommended. 55 Kenosia Avenue Conversely, duplications involving CHD1L entail delayed speech and language development. These results reinforce the view that the widespread regression reported by the parents was not for real, and that the child's poor performance in daily tasks, which becomes more evident as the boy grows older, might result from a moderate learning deficit caused by his linguistic and cognitive deficits. p. 16783. MLPA was performed to detect abnormal CNV of the subtelomeric regions of the probands' chromosomes. Interestingly too, the adult phenotype seems to be milder than the child presentation of the syndrome and includes macrocephaly and abnormalities of possible connective tissue origin, and occasionally, schizophrenia (3). McClain, L., Segreti, A. M., Nau, S., Shaw, P., Finegold, D. N., Pan, L. A., & Peters, D. G. (2020). -catenin is encoded by CTNNB1, a gene related to cognitive disorders entailing language deficits, particularly to schizophrenia (55, 56), but also to genes that have been hypothesized to contribute to language evolution in our species [see (34) for details]. The expression data are from the Human Brain Transcriptome Database (http://hbatlas.org/). TPM, transcripts per million. FoxG1 and TLE2 act cooperatively to regulate ventral telencephalon formation. (D) Developmental profile of the proband at age 5 years and 6 months according to the Inventory for Client and Agency Planning (ICAP). Additionally, language in use and overall communication skills in spontaneous conditions were assessed through the systematic analysis of a 17-min sample of the child's talk in interaction with his mother. (2014) 59:18997. Kimura H, Tanaka S, Kushima I, Koide T, Banno M, Kikuchi T, et al. An inherited small microdeletion at 15q13. doi: 10.1007/BF00433413, 84. While the former task enquires about highly-demanding computational abilities in the domain of language processing, the latter is usually difficult for people with poor reading abilities, because in Spanish passives are much more frequent in the literary register. A majority of cases are sporadic occurrences, which means there is no family history of the condition. 7q11.23 Microduplication (dup7q11.23) syndrome is a rare autosomal dominant disorder due to a recurring 1.5 to 1.8 Mb duplication of the Williams-Beuren Syndrome critical region. Mascheretti S, Riva V, Giorda R, Beri S, Lanzoni LF, Cellino MR, et al. Chromosome 15q13.3 Microduplication Syndrome is a rare condition caused by the presence of an extra copy of a small piece of chromosome 15 in the cells of the body. This chromosomal anomaly is known to develop from sporadic mutations or inherited from one's parents (very rarely). (2012) 369:13349. 10. syndrome. (1996) 12:3459. Specifically, BCL9 promotes transcriptional activity and nuclear retention of -catenin (54). Variation in gene expression levels is expressed as fold changes. It is always important to discuss the effect of risk factors with your healthcare provider. Okanda M, Asada K, Moriguchi Y, Itakura S Understanding violations of Gricean maxims in preschoolers and adults. Evolution of genetic and genomic features unique to the human lineage. Moreover, several studies point to a significant overlapping in gene expression patterns between both tissues, ranging from 20% (77, 78) to 55% (79). (2010) 153B:91936. Behavior is rated as normal or abnormal, whereas behavioral problems are subsequently rated as marginally serious, moderately serious, serious, or very serious. doi: 10.1056/NEJMoa0805384, 3. De La Cruz Lpez MV, Gonzlez Criado M. Adaptacin Espaola del Inventario de Desarrollo Battelle. It is important to note that having a risk factor does not mean that one will get the condition. A chromosome duplication disorder indicates that a certain portion of the chromosomal material is duplicated, which may be detected through molecular genetic testing. 16. J Neurodev Disord. Tapia-Pez I, Tammimies K, Massinen S, Roy AL, Kere J. Human mutation, 31(7), 840-850. p. 4158. Perfiles pragmticos Comparados de sndromes genticos neuroevolutivos (S. Williams S. Down y S. X Frgil). Hence, a true incidence of the disorder may be difficult to estimate, Both males and females are equally affected, Worldwide, individuals of all racial and ethnic groups may be affected, A positive family history may be an important risk factor since 15q13.3 Microduplication Syndrome can be inherited, Currently, no environmental and lifestyle (including dietary) factors have been implicated, The syndrome is not caused by what the expectant mother does or does not do, either prior to or during pregnancy, Most cases of the disorder develop sporadically (de novo) during embryonic development. Paracchini S, Diaz R, Stein J. Individuals with this condition can also have features ofautism spectrum disorder. Nat Genet. Eur J Hum Genet. Association study of BCL9 gene polymorphism rs583583 with schizophrenia and negative symptoms in Japanese population. Front Psychol. J Hum Genet. In12TH ITALIAN MEETING OF THE NATIONAL OBSERVATORY FOR TRAINEES AND YOUNG PAEDIATRICIANS (No. doi: 10.1007/s12311-013-0540-5, 51. (2008) 22:30019. The composite score contents assesses word and sentence meanings. Proud VK, Levine C, Carpenter NJ. The widespread application of next generation sequencing facilities to the genetic diagnosis of people with cognitive and language disorders has resulted in a growing number of genes and chromosomal regions associated to these conditions. Cho IT, Lim Y, Golden JA, Cho G. Aristaless Related Homeobox. The gene is a candidate for clinical conditions entailing speech problems, like dyslexia and speech-sound disorder (73, 74). (B) Screen capture of the UCSC Genome Browser (https://genome.ucsc.edu/) showing the genes duplicated in the proband. Regarding the language (dis)abilities of the affected people, the most detailed account is Bernier et al. In expecting parents with a familial history: It is important to note that the chances of both the parents with normal chromosomes having another child with Chromosome 15q13.3 Microduplication Syndrome is highly unlikely. On the contrary, the child scored like their peers regarding the meaning of words and sentences. 5. doi: 10.1016/j.psychres.2015.05.014, 57. Arch Gen Psychiatry (2011) 68:23240. doi: 10.1080/21622965.2013.874951, 83. The child was set twice a tympanic drainage in conjunction with adenoidectomy (at 3 years and 4 years). In conclusion, although the exact molecular causes of the cognitive and linguistic profile of our proband remain to be fully elucidated, we hypothesize that his distinctive features might result, to a large extent, from the overexpression of CHD1L. Supplementary Table 3. Genes, Brain and Behavior, 19(5), e12628. However, no association has been found between anxiolytic exposure during pregnancy and long-term language competence (84). Figure 1. (A) Screen capture of the array-CGH of the proband's chromosome 1 showing the microduplication at 1q21.1. The boy exhibits many of the cognitive, behavioral, and physical symptoms of the 1q21.1 microduplication syndrome (Table 1). 3 microduplications are associated with treatment refractory major depressive disorder. Edges ending in an arrow symbolize positive effects, edges ending in a bar symbolize negative effects, whereas edges ending in a circle symbolize unspecified effects. 7p22.1 microduplication syndrome The duplication occurs on the long (q) arm of the chromosome at a position designated q29. DA, developmental age; CA, chronological age. Mahwah, NJ: Lawrence Erlbaum (2000). Haldeman-Englert CR, Jewett T. 1q21.1 recurrent microdeletion. Am J Med Genet. BMC Pediatr. The diagram only represents the potential connectivity between the involved proteins, which has to be mapped onto particular biochemical networks, signaling pathways, cellular properties, aspects of neuronal function, or cell-types of interest. Br J Dev Psychol. Summary. We have found in the literature evidence of the potential involvement of BCL9 in the language deficits observed in patients with the 1q21.1 duplication syndrome. DNAs are nucleic acids that encodes the genetic information of any organisms; a basic unit of the DNA is termed a gene with a specific set of instructions and a defined function. Copy number variant (CNV) syndromes entailing language impairment provide important evidence of how changes in gene dosage impact on the wiring and function of brain areas involved in language processing. Supplementary Table 1. 7q11.23 duplication syndrome: MedlinePlus Genetics Accordingly, considering as well all the evidence discussed in the paper, we think that the language problems observed in our proband are mostly due to the microduplication in chromosome 1. STRING v10: protein-protein interaction networks, integrated over the tree of life. -catenin promoter ChIP-chip reveals potential schizophrenia and bipolar disorder gene network. (2015) 9:420. doi: 10.3389/fnins.2015.00420, 52. The conversation was video-recorded and then transcribed and coded using CHAT (Codes for the Human Analysis of Transcripts) software, a tool of the CHILDES Project (13). Insinga, V., Ferrara, I., Ferrara, D., Guarina, A., Fragapane, T., DAnna, A., & Corsello, G. (2015). Proc Natl Acad Sci USA. Front Hum Neurosci. Primer sequences and PCR conditions are listed in Supplementary Table 1. 16p11.2 duplication is a chromosomal change in which a small amount of genetic material within chromosome 16 is abnormally copied (duplicated). doi: 10.1096/fj.07-104455, 50. The treatment is usually given to manage the signs and symptoms and any complication that develops. Regarding CHD1L, this gene encodes a DNA helicase protein involved in the relaxation following DNA damage and ultimately, in DNA repair, and its overexpression has been linked to several types of cancers (45). doi: 10.1016/j.brainres.2015.12.056, 76. Evaluating the comparability of gene expression in blood and brain. Microdeletion and Microduplication Syndromes - Pediatrics - Merck In: Fernndez Lpez MC, Mart Snchez M, Ruiz Martnez AM, editor. The global score obtained in the Prueba de Lenguaje Oral de Navarra-Revisada (PLON-R), which evaluates speech sound production at the single word level as well as expressive abilities, was suggestive of a mild delay in the acquisition of the expressive component of language, being phonological awareness and morpho-syntax the most impaired domains. PLoS Genet. Reduced penetrance must be considered as well as the age of onset of the symptoms. (A) Facial picture illustrating some of the dysmorphological features found in the proband. Copyright 2018 Bentez-Burraco, Barcos-Martnez, Espejo-Portero, Fernndez-Urquiza, Torres-Ruiz, Rodrguez-Perales and Jimnez-Romero. The number of occurrences of each labeled phenomenon was automatically computed by means of CLAN (Computerized Language Analysis) (18), allowing us to build up a global description of the pragmatic linguistic profile of the proband, that is to say, of the most salient phenomena of his language in use. Common characteristics that occur in people with a 16p11 . This effect might result in altered speech perception in humans. The ICAP measures the frequency and severity of eight types of behavioral disturbances, which are organized in three subscales: asocial maladaptive behavior (uncooperative behavior and socially offensive behavior), internalized maladaptive behavior (withdrawn or inattentive behavior, unusual or repetitive habits, and self-harm), and externalized maladaptive behavior (disruptive behavior, destructive to property, and hurtful to others). PLoS ONE (2014) 9:e105729. PLoS ONE (2013) 8:e51674. Boeckx C, Bentez-Burraco A. Globularity and language-readiness: generating new predictions by expanding the set of genes of interest. [1] Supplementary Table 2. Bernier R, Steinman KJ, Reilly B, Wallace AS, Sherr EH, Pojman N, et al. Finally, his interactive pragmatic skills seemed to be preserved: visual contact and joint attention mechanisms were normal, as well as patterns of turn taking and construction of collaborative turns during conversation. Fernndez-Urquiza M, Viejo A, Cortias S, Huelmo J, Medina B, Garca I, et al. Battelle Developmental Inventories consist of 341 items and are aimed to evaluate personal/social development, adaptive capabilities, motor abilities (gross and fine), communication skills (in the receptive and expressive domains), and cognitive development. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. J Neurogenet. Nonetheless, the linguistic evaluation of patients usually involves psychological tests only. doi: 10.1038/nrg3336. In order to make more reliable comparisons, the resulting scores are shown as relative values referred to the expected scores according to the chronological age of the child. Hannula-Jouppi K, Kaminen-Ahola N, Taipale M, Eklund R, Nopola-Hemmi J, Kriinen H, et al. Figure 3. In Silico Pharmacol. (B) Developmental profile of the proband's mother according to the verbal component of the WAIS-III (for comparison, the figure includes the profile of the healthy, non-carrier father). Dev Biol. The most frequent reported symptoms in patients with 22q11.2 duplication syndrome are intellectual disability /learning disability (97% of patients), delayed psychomotor development (67% of patients), growth retardation (63% of patients) and muscular hypotonia (43% of patients). Humans have 46 chromosomes in the cell nucleus, in 23 pairs, of which one pair is named the sex chromosome. The most impaired areas were the general mental processing abilities (very significant deficit) and the sequential processing abilities (significant deficit), although the child scored lower than his peers in the remaining domains too. 3 and 19p13. The PROLEC-SE is aimed to assess the reading abilities by adolescents between 12 and 18 years old. Chromosome 3q29 microduplication syndrome is a rare chromosome abnormality characterized by having an extra copy of material (duplication) on a specific part of the long arm of chromosome 3. The gene is upregulated in the embryonic brain, particularly, in the neocortex (Figure 7). According to its known role in vocalization, the gene is highly expressed in several subcortical regions (Figure 7). Consensus paper: language and the cerebellum: an ongoing enigma. Chromosome 15q13.3 Microdeletion Syndrome - DoveMed doi: 10.1038/ejhg.2015.186, 44. When the condition is inherited, it occurs in an autosomal dominant manner, There are two chromosomes numbered 15. The test comprises 16 subtests arranged into three scales: Simultaneous Processing, Sequential Processing, and Knowledge. Some people with a 1q21.1 microduplication have developmental delay and intellectual disability that is typically mild to moderate. DECIPHER patients of interest bearing chromosomal duplications at 1q21.1 with similar or smaller sizes than the one found in the proband. Conti-Ramsden. Odsbu I, Skurtveit S, Selmer R, Roth C, Hernandez-Diaz S, Handal M. Prenatal exposure to anxiolytics and hypnotics and language competence at 3 years of age. Conde E, Seisdedos N. K-ABC: Batera de Evaluacin de Kaufman Para Nios. Pediatr. Bentez-Burraco A, Boeckx C. Possible functional links among brain- and skull-related genes selected in modern humans. B., Bian, L., Zhang, C. S., Li, X. W., Gu, N. F., & He, L. (2008). The treatment may involve physician experts from several specialties, and can include seizure control, physiotherapy, and surgery for correction of physical defects, if necessary, The prognosis is primarily dependent on the severity of the disorder, and it varies from one child to another. 31. Ma, J., Fan, J. Poor muscle tone (hypotonia) is common in individuals with dup15q syndrome and contributes to delayed development and impairment of motor skills, including sitting and walking. Received: 12 February 2018; Accepted: 15 May 2018; Published: 05 June 2018. The child received early childhood intervention from age 2 years and 4 months. Fax: 203-263-9938, Washington, DC Office The DNA from the patient and his parents was hybridized on a CGH platform (Agilent Technologies). Kennedy MW, Cha SW, Tadjuidje E, Andrews PG, Heasman J, Kao KR. Arx is a direct target of Dlx2 and thereby contributes to the tangential migration of GABAergic interneurons. NORD is not a medical provider or health care facility and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. In males, it is designated XY, for chromosome X and chromosome Y; while, in females, it is designated XX, for a pair of chromosome X. (2018) 18:41. doi: 10.1186/s12887-018-1035-9, 81. This duplication can have a variety of effects. The chromosome 1q21.1 duplication syndrome (OMIM# 612475) results from microduplications of the BP3-BP4 region, with a minimum duplicated region of ~1.2 Mb of unique DNA sequence, which includes at least seven genes, although a less common variant, resulting from microduplications of the BP2-BP4 region, with a duplicated region of ~2 Mb and encompassing the region deleted in the TAR syndrome (OMIM# 274000), has been also reported (1). doi: 10.1086/522237, 69. 14. Brain Res. To begin with, in mice, Bcl9 is a target of Foxp2, the renowned language gene (57).
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