A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient
About 15% of patients with a clinical phenotype of Angelman syndrome (AS) have an unknown etiology. We report a patient with features reminiscent of AS, including a pattern of characteristic facial anomalies as well as speech impairment, developmental delay and frequent laughter. In addition, the pa...
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| Veröffentlicht in: | Cytogenetic and genome research 2006-01, Vol.114 (1), p.89-92 |
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| container_title | Cytogenetic and genome research |
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| creator | Varela, M.C. Krepischi-Santos, A.C.V. Paz, J.A. Knijnenburg, J. Szuhai, K. Rosenberg, C. Koiffmann, C.P. |
| description | About 15% of patients with a clinical phenotype of Angelman syndrome (AS) have an unknown etiology. We report a patient with features reminiscent of AS, including a pattern of characteristic facial anomalies as well as speech impairment, developmental delay and frequent laughter. In addition, the patient had features not commonly associated with AS such as heart malformations and scoliosis. She was negative in SNURF-SNRPN exon 1 methylation studies and the G-banded karyotype was normal. Array-based comparative genomic hybridization disclosed a deletion of maximally 1 Mb at 17q21.31. The deleted region contains the MAPT gene, implicated in late onset neurodegenerative disorders, and the STH and NP_056258.1 genes. Another gene, such as CRHR1, might also be included based on maximum possible size of the deletion. We suggest that microdeletions within the 17q21.31 segment should be considered as a possible cause of phenotypes resembling AS, particularly when easily controlled seizures and/or cardiac abnormalities are also present. |
| doi_str_mv | 10.1159/000091934 |
| format | Article |
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We report a patient with features reminiscent of AS, including a pattern of characteristic facial anomalies as well as speech impairment, developmental delay and frequent laughter. In addition, the patient had features not commonly associated with AS such as heart malformations and scoliosis. She was negative in SNURF-SNRPN exon 1 methylation studies and the G-banded karyotype was normal. Array-based comparative genomic hybridization disclosed a deletion of maximally 1 Mb at 17q21.31. The deleted region contains the MAPT gene, implicated in late onset neurodegenerative disorders, and the STH and NP_056258.1 genes. Another gene, such as CRHR1, might also be included based on maximum possible size of the deletion. We suggest that microdeletions within the 17q21.31 segment should be considered as a possible cause of phenotypes resembling AS, particularly when easily controlled seizures and/or cardiac abnormalities are also present.</description><identifier>ISSN: 1424-8581</identifier><identifier>EISSN: 1424-859X</identifier><identifier>DOI: 10.1159/000091934</identifier><identifier>PMID: 16717456</identifier><language>eng</language><publisher>Basel, Switzerland: S. Karger AG</publisher><subject>Abnormalities, Multiple - genetics ; Angelman Syndrome - genetics ; Child, Preschool ; Chromosomes, Human, Pair 17 ; Facial Expression ; Female ; Human Cytogenetics Case Report ; Humans ; Intellectual Disability - genetics ; Nerve Tissue Proteins - genetics ; Sequence Deletion ; tau Proteins</subject><ispartof>Cytogenetic and genome research, 2006-01, Vol.114 (1), p.89-92</ispartof><rights>2006 S. Karger AG, Basel</rights><rights>2006 S. Karger AG, Basel.</rights><rights>Copyright (c) 2006 S. Karger AG, Basel</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c330t-f4d23b8ec3aa9930d97134e0e05d8b6255aa88e8ba4430c5afd3b3172ae9e7b43</citedby><cites>FETCH-LOGICAL-c330t-f4d23b8ec3aa9930d97134e0e05d8b6255aa88e8ba4430c5afd3b3172ae9e7b43</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,2423,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16717456$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Varela, M.C.</creatorcontrib><creatorcontrib>Krepischi-Santos, A.C.V.</creatorcontrib><creatorcontrib>Paz, J.A.</creatorcontrib><creatorcontrib>Knijnenburg, J.</creatorcontrib><creatorcontrib>Szuhai, K.</creatorcontrib><creatorcontrib>Rosenberg, C.</creatorcontrib><creatorcontrib>Koiffmann, C.P.</creatorcontrib><title>A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient</title><title>Cytogenetic and genome research</title><addtitle>Cytogenet Genome Res</addtitle><description>About 15% of patients with a clinical phenotype of Angelman syndrome (AS) have an unknown etiology. We report a patient with features reminiscent of AS, including a pattern of characteristic facial anomalies as well as speech impairment, developmental delay and frequent laughter. In addition, the patient had features not commonly associated with AS such as heart malformations and scoliosis. She was negative in SNURF-SNRPN exon 1 methylation studies and the G-banded karyotype was normal. Array-based comparative genomic hybridization disclosed a deletion of maximally 1 Mb at 17q21.31. The deleted region contains the MAPT gene, implicated in late onset neurodegenerative disorders, and the STH and NP_056258.1 genes. Another gene, such as CRHR1, might also be included based on maximum possible size of the deletion. We suggest that microdeletions within the 17q21.31 segment should be considered as a possible cause of phenotypes resembling AS, particularly when easily controlled seizures and/or cardiac abnormalities are also present.</description><subject>Abnormalities, Multiple - genetics</subject><subject>Angelman Syndrome - genetics</subject><subject>Child, Preschool</subject><subject>Chromosomes, Human, Pair 17</subject><subject>Facial Expression</subject><subject>Female</subject><subject>Human Cytogenetics Case Report</subject><subject>Humans</subject><subject>Intellectual Disability - genetics</subject><subject>Nerve Tissue Proteins - genetics</subject><subject>Sequence Deletion</subject><subject>tau Proteins</subject><issn>1424-8581</issn><issn>1424-859X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNpd0EtLAzEQB_AgitXqwbMgwYPgoZrJY5Mci_gCRREFb0t2d1pT99Em20O_vZGWCs4lQ_jNMPwJOQF2BaDsNUtlwQq5Qw5Acjkyyn7ubnsDA3IY44wxMFJl-2QAmQad2gPyNqagFxyuBNDGl6GrsMbedy3FtuyauYvRt1PafyF9Hr--0ym2SH1LHW2w7V1dr6hPyges6Nz1Pn0ekb2JqyMeb94h-bi7fb95GD293D_ejJ9GpRCsH01kxUVhsBTOWStYZTUIiQyZqkyRcaWcMwZN4aQUrFRuUolCgOYOLepCiiG5WO-dh26xxNjnjY8l1rVrsVvGPNPWaAs6wfN_cNYtQ5tuyzmXHHimVEKXa5QyiDHgJJ8H37iwyoHlvynn25STPdssXBYNVn9yE2sCp2vw7cIUwxasx38ABo99vQ</recordid><startdate>20060101</startdate><enddate>20060101</enddate><creator>Varela, M.C.</creator><creator>Krepischi-Santos, A.C.V.</creator><creator>Paz, J.A.</creator><creator>Knijnenburg, J.</creator><creator>Szuhai, K.</creator><creator>Rosenberg, C.</creator><creator>Koiffmann, C.P.</creator><general>S. 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We report a patient with features reminiscent of AS, including a pattern of characteristic facial anomalies as well as speech impairment, developmental delay and frequent laughter. In addition, the patient had features not commonly associated with AS such as heart malformations and scoliosis. She was negative in SNURF-SNRPN exon 1 methylation studies and the G-banded karyotype was normal. Array-based comparative genomic hybridization disclosed a deletion of maximally 1 Mb at 17q21.31. The deleted region contains the MAPT gene, implicated in late onset neurodegenerative disorders, and the STH and NP_056258.1 genes. Another gene, such as CRHR1, might also be included based on maximum possible size of the deletion. We suggest that microdeletions within the 17q21.31 segment should be considered as a possible cause of phenotypes resembling AS, particularly when easily controlled seizures and/or cardiac abnormalities are also present.</abstract><cop>Basel, Switzerland</cop><pub>S. 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| subjects | Abnormalities, Multiple - genetics Angelman Syndrome - genetics Child, Preschool Chromosomes, Human, Pair 17 Facial Expression Female Human Cytogenetics Case Report Humans Intellectual Disability - genetics Nerve Tissue Proteins - genetics Sequence Deletion tau Proteins |
| title | A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient |
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