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Mutation of TBC1 Domain containing kinase (TBCK) with associated intellectual disability and hypotonia
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies-3 (IHPRF-3) Syndrome is a rare pathology occurring due to mutations in the TBC1 domain containing kinase (TBCK). This is a neurodevelopmental disorder presenting with a neurological and dysmorphic feature including intellectu...
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| Published in: | Journal of the Pakistan Medical Association 2023-10, Vol.73 (10), p.2083-2085 |
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| Language: | English |
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| container_end_page | 2085 |
| container_issue | 10 |
| container_start_page | 2083 |
| container_title | Journal of the Pakistan Medical Association |
| container_volume | 73 |
| creator | Prem Chand Sulaiman, Asna Kirmani, Salman |
| description | Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies-3 (IHPRF-3) Syndrome is a rare pathology occurring due to mutations in the TBC1 domain containing kinase (TBCK). This is a neurodevelopmental disorder presenting with a neurological and dysmorphic feature including intellectual disability, limb and craniofacial abnormalities. We present a case of TBCK mutation of the variant (p.Gln164*), present on Exon 6; this sequence change creates a premature translational stop signal (p.Gln164*) in TBCK, creating a disrupted protein leading to a loss of function. This variant has not yet been reported in genetic databases. We need to establish a better understanding of this disorder by reporting these novel genetic mutations so that these complex patients can be successfully managed by multidisciplinary teams.
Keywords: Infantile hypotonia, Intellectual disability, Gene mutation. |
| doi_str_mv | 10.47391/JPMA.6733 |
| format | article |
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Keywords: Infantile hypotonia, Intellectual disability, Gene mutation.</description><identifier>ISSN: 0030-9982</identifier><identifier>DOI: 10.47391/JPMA.6733</identifier><language>eng</language><publisher>Knowledge Bylanes</publisher><subject>Diagnosis ; Gene mutation ; Gene mutations ; Genetic aspects ; Health aspects ; Identification and classification ; Infantile hypotonia ; Intellectual disability ; Mental retardation ; Muscle hypotonia ; Pediatric research ; Protein kinases ; Risk factors</subject><ispartof>Journal of the Pakistan Medical Association, 2023-10, Vol.73 (10), p.2083-2085</ispartof><rights>COPYRIGHT 2023 Knowledge Bylanes</rights><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,777,781,861,2096,27905,27906</link.rule.ids></links><search><creatorcontrib>Prem Chand</creatorcontrib><creatorcontrib>Sulaiman, Asna</creatorcontrib><creatorcontrib>Kirmani, Salman</creatorcontrib><title>Mutation of TBC1 Domain containing kinase (TBCK) with associated intellectual disability and hypotonia</title><title>Journal of the Pakistan Medical Association</title><description>Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies-3 (IHPRF-3) Syndrome is a rare pathology occurring due to mutations in the TBC1 domain containing kinase (TBCK). This is a neurodevelopmental disorder presenting with a neurological and dysmorphic feature including intellectual disability, limb and craniofacial abnormalities. We present a case of TBCK mutation of the variant (p.Gln164*), present on Exon 6; this sequence change creates a premature translational stop signal (p.Gln164*) in TBCK, creating a disrupted protein leading to a loss of function. This variant has not yet been reported in genetic databases. We need to establish a better understanding of this disorder by reporting these novel genetic mutations so that these complex patients can be successfully managed by multidisciplinary teams.
Keywords: Infantile hypotonia, Intellectual disability, Gene mutation.</description><subject>Diagnosis</subject><subject>Gene mutation</subject><subject>Gene mutations</subject><subject>Genetic aspects</subject><subject>Health aspects</subject><subject>Identification and classification</subject><subject>Infantile hypotonia</subject><subject>Intellectual disability</subject><subject>Mental retardation</subject><subject>Muscle hypotonia</subject><subject>Pediatric research</subject><subject>Protein kinases</subject><subject>Risk factors</subject><issn>0030-9982</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><sourceid>DOA</sourceid><recordid>eNptkU-LFDEQxfug4Lp68RMEBFFhxnSSTifHcdY_q7voYT2H6kp6ptaeZOlkkPn2ZnZEXJA6PKj61YOq1zQvWr5UvbTtuy_fr1dL3Uv5qDnjXPKFtUY8aZ7mfMu50B3nZ814vS9QKEWWRnbzft2yi7QDigxTLFUpbthPipADe13HX9-wX1S2DHJOSFCCZxRLmKaAZQ8T85RhoInKgUH0bHu4SyVFgmfN4xGmHJ7_0fPmx8cPN-vPi6tvny7Xq6sFyk6VBfTWCz9q5EFJAETsRB9MwG7wXIreCmG0lcbb0OEgPKjWdBhQ4qBAd1qeN5cnX5_g1t3NtIP54BKQu2-keeNgLoRTcNparo0a-uCVgl4Z36r6FemtHQaBY_V6efLaQMUpjqnMgDvK6Fa97kzbamUqtfwPVcuHHdUnhpFq_8HCq38WtgGmss1p2h9DyA_BtycQ55TzHMa_97Tc3Sfsjgm7Y8LyN6PomPI</recordid><startdate>20231031</startdate><enddate>20231031</enddate><creator>Prem Chand</creator><creator>Sulaiman, Asna</creator><creator>Kirmani, Salman</creator><general>Knowledge Bylanes</general><general>Pakistan Medical Association</general><scope>AAYXX</scope><scope>CITATION</scope><scope>DOA</scope></search><sort><creationdate>20231031</creationdate><title>Mutation of TBC1 Domain containing kinase (TBCK) with associated intellectual disability and hypotonia</title><author>Prem Chand ; Sulaiman, Asna ; Kirmani, Salman</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c354t-a79d2df6c0e43aaccc527e8ec5bd032792286938d9e5cb2da4185cec3cb4a6563</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>Diagnosis</topic><topic>Gene mutation</topic><topic>Gene mutations</topic><topic>Genetic aspects</topic><topic>Health aspects</topic><topic>Identification and classification</topic><topic>Infantile hypotonia</topic><topic>Intellectual disability</topic><topic>Mental retardation</topic><topic>Muscle hypotonia</topic><topic>Pediatric research</topic><topic>Protein kinases</topic><topic>Risk factors</topic><toplevel>online_resources</toplevel><creatorcontrib>Prem Chand</creatorcontrib><creatorcontrib>Sulaiman, Asna</creatorcontrib><creatorcontrib>Kirmani, Salman</creatorcontrib><collection>CrossRef</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>Journal of the Pakistan Medical Association</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Prem Chand</au><au>Sulaiman, Asna</au><au>Kirmani, Salman</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutation of TBC1 Domain containing kinase (TBCK) with associated intellectual disability and hypotonia</atitle><jtitle>Journal of the Pakistan Medical Association</jtitle><date>2023-10-31</date><risdate>2023</risdate><volume>73</volume><issue>10</issue><spage>2083</spage><epage>2085</epage><pages>2083-2085</pages><issn>0030-9982</issn><abstract>Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies-3 (IHPRF-3) Syndrome is a rare pathology occurring due to mutations in the TBC1 domain containing kinase (TBCK). This is a neurodevelopmental disorder presenting with a neurological and dysmorphic feature including intellectual disability, limb and craniofacial abnormalities. We present a case of TBCK mutation of the variant (p.Gln164*), present on Exon 6; this sequence change creates a premature translational stop signal (p.Gln164*) in TBCK, creating a disrupted protein leading to a loss of function. This variant has not yet been reported in genetic databases. We need to establish a better understanding of this disorder by reporting these novel genetic mutations so that these complex patients can be successfully managed by multidisciplinary teams.
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| identifier | ISSN: 0030-9982 |
| ispartof | Journal of the Pakistan Medical Association, 2023-10, Vol.73 (10), p.2083-2085 |
| issn | 0030-9982 |
| language | eng |
| recordid | cdi_doaj_primary_oai_doaj_org_article_6990684b7ed44a748d140263d99bb2cf |
| source | DOAJ Directory of Open Access Journals |
| subjects | Diagnosis Gene mutation Gene mutations Genetic aspects Health aspects Identification and classification Infantile hypotonia Intellectual disability Mental retardation Muscle hypotonia Pediatric research Protein kinases Risk factors |
| title | Mutation of TBC1 Domain containing kinase (TBCK) with associated intellectual disability and hypotonia |
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