A new entity in the NARS2 variant: the first reported case of type 1 diabetes mellitus associated with the phenotype
Abstract NARS2 mutations are known to cause various clinical phenotypes such as nonsyndromic hearing loss, Leigh/Alpers syndrome, refractory epilepsy, developmental delay, intellectual disability and myopathy. We presented the first Turkish variant of NASR2 and added type 1 diabetes mellitus (DM), w...
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| Veröffentlicht in: | Journal of tropical pediatrics (1980) 2022-12, Vol.69 (1) |
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| container_title | Journal of tropical pediatrics (1980) |
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| creator | Cokyaman, Turgay Cetin, Huriye Dogan, Durmus Silan, Fatma |
| description | Abstract
NARS2 mutations are known to cause various clinical phenotypes such as nonsyndromic hearing loss, Leigh/Alpers syndrome, refractory epilepsy, developmental delay, intellectual disability and myopathy. We presented the first Turkish variant of NASR2 and added type 1 diabetes mellitus (DM), which was not previously described in the phenotype spectrum of this disease. A 4.5-month-old girl presented with hearing loss, hypotonia, refractory myoclonic epilepsy, severe developmental delay and large subdural hemorrhage. In the first year of the follow-up, type 1 DM developed. A homozygous missense mutation, [c.500 A>G, p.H167R] in the NARS2 gene was detected in the trio-based whole-exome sequencing (WES). In this disease, in addition to multi-organ involvement, type 1 DM may also develop, as in our case. Since it is a mitochondrial disease, the decision to treat with valproic acid should be reconsidered. The long diagnostic process can be shortened with WES. |
| doi_str_mv | 10.1093/tropej/fmac108 |
| format | Article |
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NARS2 mutations are known to cause various clinical phenotypes such as nonsyndromic hearing loss, Leigh/Alpers syndrome, refractory epilepsy, developmental delay, intellectual disability and myopathy. We presented the first Turkish variant of NASR2 and added type 1 diabetes mellitus (DM), which was not previously described in the phenotype spectrum of this disease. A 4.5-month-old girl presented with hearing loss, hypotonia, refractory myoclonic epilepsy, severe developmental delay and large subdural hemorrhage. In the first year of the follow-up, type 1 DM developed. A homozygous missense mutation, [c.500 A>G, p.H167R] in the NARS2 gene was detected in the trio-based whole-exome sequencing (WES). In this disease, in addition to multi-organ involvement, type 1 DM may also develop, as in our case. Since it is a mitochondrial disease, the decision to treat with valproic acid should be reconsidered. The long diagnostic process can be shortened with WES.</description><identifier>ISSN: 1465-3664</identifier><identifier>EISSN: 1465-3664</identifier><identifier>DOI: 10.1093/tropej/fmac108</identifier><identifier>PMID: 36661119</identifier><language>eng</language><publisher>England: Oxford University Press</publisher><subject>Aspartate-tRNA Ligase - genetics ; Diabetes Mellitus, Type 1 - complications ; Diabetes Mellitus, Type 1 - diagnosis ; Diabetes Mellitus, Type 1 - genetics ; Female ; Humans ; Infant ; Intellectual Disability - diagnosis ; Intellectual Disability - genetics ; Leigh Disease ; Mutation ; Mutation, Missense ; Phenotype</subject><ispartof>Journal of tropical pediatrics (1980), 2022-12, Vol.69 (1)</ispartof><rights>The Author(s) [2023]. Published by Oxford University Press. All rights reserved. For permissions, please email: journals.permissions@oup.com 2023</rights><rights>The Author(s) [2023]. Published by Oxford University Press. All rights reserved. For permissions, please email: journals.permissions@oup.com.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c259t-540f82633dfd22ca33a5c2ba472b3034839e52139d6e321393cf708c21f4d7e13</citedby><cites>FETCH-LOGICAL-c259t-540f82633dfd22ca33a5c2ba472b3034839e52139d6e321393cf708c21f4d7e13</cites><orcidid>0000-0002-7911-9981 ; 0000-0001-7191-2240 ; 0000-0001-5369-8797 ; 0000-0002-7108-6839</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/36661119$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Cokyaman, Turgay</creatorcontrib><creatorcontrib>Cetin, Huriye</creatorcontrib><creatorcontrib>Dogan, Durmus</creatorcontrib><creatorcontrib>Silan, Fatma</creatorcontrib><title>A new entity in the NARS2 variant: the first reported case of type 1 diabetes mellitus associated with the phenotype</title><title>Journal of tropical pediatrics (1980)</title><addtitle>J Trop Pediatr</addtitle><description>Abstract
NARS2 mutations are known to cause various clinical phenotypes such as nonsyndromic hearing loss, Leigh/Alpers syndrome, refractory epilepsy, developmental delay, intellectual disability and myopathy. We presented the first Turkish variant of NASR2 and added type 1 diabetes mellitus (DM), which was not previously described in the phenotype spectrum of this disease. A 4.5-month-old girl presented with hearing loss, hypotonia, refractory myoclonic epilepsy, severe developmental delay and large subdural hemorrhage. In the first year of the follow-up, type 1 DM developed. A homozygous missense mutation, [c.500 A>G, p.H167R] in the NARS2 gene was detected in the trio-based whole-exome sequencing (WES). In this disease, in addition to multi-organ involvement, type 1 DM may also develop, as in our case. Since it is a mitochondrial disease, the decision to treat with valproic acid should be reconsidered. The long diagnostic process can be shortened with WES.</description><subject>Aspartate-tRNA Ligase - genetics</subject><subject>Diabetes Mellitus, Type 1 - complications</subject><subject>Diabetes Mellitus, Type 1 - diagnosis</subject><subject>Diabetes Mellitus, Type 1 - genetics</subject><subject>Female</subject><subject>Humans</subject><subject>Infant</subject><subject>Intellectual Disability - diagnosis</subject><subject>Intellectual Disability - genetics</subject><subject>Leigh Disease</subject><subject>Mutation</subject><subject>Mutation, Missense</subject><subject>Phenotype</subject><issn>1465-3664</issn><issn>1465-3664</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkEtLAzEUhYMotla3LiVLXbTNa17uSvEFRcHHeshkbmhKZzImGUv_vTNtFXeuzuXwncPlIHRJyYSSjE-Dsw2sprqSipL0CA2piKMxj2Nx_OceoDPvV4QQlgpxigadF1NKsyEKM1zDBkMdTNhiU-OwBPw8e31j-Es6I-twu7O0cT5gB411AUqspAdsNQ7bBjDFpZEFBPC4gvXahNZj6b1VRvbsxoTlrqNZQm37xDk60XLt4eKgI_Rxf_c-fxwvXh6e5rPFWLEoC-NIEJ2ymPNSl4wpybmMFCukSFjBCRcpzyBilGdlDLxXrnRCUsWoFmUClI_Q9b63cfazBR_yynjVvShrsK3PWRKnTLCIpB062aPKWe8d6LxxppJum1OS90vn-6Xzw9Jd4OrQ3RYVlL_4z7QdcLMHbNv8V_YN6wKKHg</recordid><startdate>20221205</startdate><enddate>20221205</enddate><creator>Cokyaman, Turgay</creator><creator>Cetin, Huriye</creator><creator>Dogan, Durmus</creator><creator>Silan, Fatma</creator><general>Oxford University Press</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-7911-9981</orcidid><orcidid>https://orcid.org/0000-0001-7191-2240</orcidid><orcidid>https://orcid.org/0000-0001-5369-8797</orcidid><orcidid>https://orcid.org/0000-0002-7108-6839</orcidid></search><sort><creationdate>20221205</creationdate><title>A new entity in the NARS2 variant: the first reported case of type 1 diabetes mellitus associated with the phenotype</title><author>Cokyaman, Turgay ; Cetin, Huriye ; Dogan, Durmus ; Silan, Fatma</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c259t-540f82633dfd22ca33a5c2ba472b3034839e52139d6e321393cf708c21f4d7e13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>Aspartate-tRNA Ligase - genetics</topic><topic>Diabetes Mellitus, Type 1 - complications</topic><topic>Diabetes Mellitus, Type 1 - diagnosis</topic><topic>Diabetes Mellitus, Type 1 - genetics</topic><topic>Female</topic><topic>Humans</topic><topic>Infant</topic><topic>Intellectual Disability - diagnosis</topic><topic>Intellectual Disability - genetics</topic><topic>Leigh Disease</topic><topic>Mutation</topic><topic>Mutation, Missense</topic><topic>Phenotype</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Cokyaman, Turgay</creatorcontrib><creatorcontrib>Cetin, Huriye</creatorcontrib><creatorcontrib>Dogan, Durmus</creatorcontrib><creatorcontrib>Silan, Fatma</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of tropical pediatrics (1980)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Cokyaman, Turgay</au><au>Cetin, Huriye</au><au>Dogan, Durmus</au><au>Silan, Fatma</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A new entity in the NARS2 variant: the first reported case of type 1 diabetes mellitus associated with the phenotype</atitle><jtitle>Journal of tropical pediatrics (1980)</jtitle><addtitle>J Trop Pediatr</addtitle><date>2022-12-05</date><risdate>2022</risdate><volume>69</volume><issue>1</issue><issn>1465-3664</issn><eissn>1465-3664</eissn><abstract>Abstract
NARS2 mutations are known to cause various clinical phenotypes such as nonsyndromic hearing loss, Leigh/Alpers syndrome, refractory epilepsy, developmental delay, intellectual disability and myopathy. We presented the first Turkish variant of NASR2 and added type 1 diabetes mellitus (DM), which was not previously described in the phenotype spectrum of this disease. A 4.5-month-old girl presented with hearing loss, hypotonia, refractory myoclonic epilepsy, severe developmental delay and large subdural hemorrhage. In the first year of the follow-up, type 1 DM developed. A homozygous missense mutation, [c.500 A>G, p.H167R] in the NARS2 gene was detected in the trio-based whole-exome sequencing (WES). In this disease, in addition to multi-organ involvement, type 1 DM may also develop, as in our case. Since it is a mitochondrial disease, the decision to treat with valproic acid should be reconsidered. The long diagnostic process can be shortened with WES.</abstract><cop>England</cop><pub>Oxford University Press</pub><pmid>36661119</pmid><doi>10.1093/tropej/fmac108</doi><orcidid>https://orcid.org/0000-0002-7911-9981</orcidid><orcidid>https://orcid.org/0000-0001-7191-2240</orcidid><orcidid>https://orcid.org/0000-0001-5369-8797</orcidid><orcidid>https://orcid.org/0000-0002-7108-6839</orcidid></addata></record> |
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| ispartof | Journal of tropical pediatrics (1980), 2022-12, Vol.69 (1) |
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| source | Oxford University Press Journals All Titles (1996-Current); MEDLINE; Alma/SFX Local Collection |
| subjects | Aspartate-tRNA Ligase - genetics Diabetes Mellitus, Type 1 - complications Diabetes Mellitus, Type 1 - diagnosis Diabetes Mellitus, Type 1 - genetics Female Humans Infant Intellectual Disability - diagnosis Intellectual Disability - genetics Leigh Disease Mutation Mutation, Missense Phenotype |
| title | A new entity in the NARS2 variant: the first reported case of type 1 diabetes mellitus associated with the phenotype |
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