Liver Involvement in Patients with Rare IMBOAT7/I Variants and Intellectual Disability: A Case Report and Literature Review
The membrane-bound O-acyltransferase domain-containing 7 (MBOAT7) protein is an acyltransferase catalyzing arachidonic acid incorporation into lysophosphatidylinositol. Patients with rare, biallelic loss-of-function variants of the MBOAT7 gene display intellectual disability with neurodevelopmental...
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| Veröffentlicht in: | Genes 2023-08, Vol.14 (8) |
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| container_title | Genes |
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| creator | Ronzoni, Luisa Mureddu, Matteo Malvestiti, Francesco Moretti, Vittoria Bianco, Cristiana Periti, Giulia Baldassarri, Margherita Ariani, Francesca Carrer, Anna Pelusi, Serena Renieri, Alessandra Prati, Daniele Valenti, Luca |
| description | The membrane-bound O-acyltransferase domain-containing 7 (MBOAT7) protein is an acyltransferase catalyzing arachidonic acid incorporation into lysophosphatidylinositol. Patients with rare, biallelic loss-of-function variants of the MBOAT7 gene display intellectual disability with neurodevelopmental defects. The rs641738 inherited variant associated with reduced hepatic MBOAT7 expression has been linked to steatotic liver disease susceptibility. However, the impact of biallelic loss-of-function MBOAT7 variants on liver disease is not known. We report on a 2-year-old girl with MBOAT7-related intellectual disability and steatotic liver disease, confirming that MBOAT7 loss-of-function predisposes to liver disease. |
| doi_str_mv | 10.3390/genes14081633 |
| format | Article |
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Patients with rare, biallelic loss-of-function variants of the MBOAT7 gene display intellectual disability with neurodevelopmental defects. The rs641738 inherited variant associated with reduced hepatic MBOAT7 expression has been linked to steatotic liver disease susceptibility. However, the impact of biallelic loss-of-function MBOAT7 variants on liver disease is not known. 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Patients with rare, biallelic loss-of-function variants of the MBOAT7 gene display intellectual disability with neurodevelopmental defects. The rs641738 inherited variant associated with reduced hepatic MBOAT7 expression has been linked to steatotic liver disease susceptibility. However, the impact of biallelic loss-of-function MBOAT7 variants on liver disease is not known. We report on a 2-year-old girl with MBOAT7-related intellectual disability and steatotic liver disease, confirming that MBOAT7 loss-of-function predisposes to liver disease.</description><subject>Disease susceptibility</subject><subject>Lipids</subject><subject>Liver</subject><subject>Liver diseases</subject><issn>2073-4425</issn><issn>2073-4425</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><sourceid/><recordid>eNptjs1PwkAQxTdGEwly9L6JZ2C_2gVvFUWb1GAI8UqGdhbXLK3ZXUqM_7xFPXBw5jAvb35vMoRcczaScsrGW6wxcMUmPJXyjPQE03KolEjOT_QlGYTwzrpSTDCW9MhXYVv0NK_bxrW4wzpSW9MXiLaTgR5sfKNL8Ejz57tFttLjnL6Ct3BcQl11wYjOYRn34Oi9DbCxzsbPW5rRGQSkS_xofPxBCxvRQ9z7o9taPFyRCwMu4OBv9slq_rCaPQ2LxWM-y4rhNj3-zYXkTPKNkFpXwKTCCYLBjZ4CGEi5FFAmKkFQ04ohr4xKmJFJkhptRGlkn9z8nt2Cw7WtTRM9lDsbynWmU6G0ZlJ21OgfqusKd7ZsajS2808C3xCdb6I</recordid><startdate>20230801</startdate><enddate>20230801</enddate><creator>Ronzoni, Luisa</creator><creator>Mureddu, Matteo</creator><creator>Malvestiti, Francesco</creator><creator>Moretti, Vittoria</creator><creator>Bianco, Cristiana</creator><creator>Periti, Giulia</creator><creator>Baldassarri, Margherita</creator><creator>Ariani, Francesca</creator><creator>Carrer, Anna</creator><creator>Pelusi, Serena</creator><creator>Renieri, Alessandra</creator><creator>Prati, Daniele</creator><creator>Valenti, Luca</creator><general>MDPI AG</general><scope/></search><sort><creationdate>20230801</creationdate><title>Liver Involvement in Patients with Rare IMBOAT7/I Variants and Intellectual Disability: A Case Report and Literature Review</title><author>Ronzoni, Luisa ; Mureddu, Matteo ; Malvestiti, Francesco ; Moretti, Vittoria ; Bianco, Cristiana ; Periti, Giulia ; Baldassarri, Margherita ; Ariani, Francesca ; Carrer, Anna ; Pelusi, Serena ; Renieri, Alessandra ; Prati, Daniele ; Valenti, Luca</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-g673-41231031b2377da034e8eafeb79aafa6132ac545ea49d0e1df450f3556f7f2cf3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>Disease susceptibility</topic><topic>Lipids</topic><topic>Liver</topic><topic>Liver diseases</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ronzoni, Luisa</creatorcontrib><creatorcontrib>Mureddu, Matteo</creatorcontrib><creatorcontrib>Malvestiti, Francesco</creatorcontrib><creatorcontrib>Moretti, Vittoria</creatorcontrib><creatorcontrib>Bianco, Cristiana</creatorcontrib><creatorcontrib>Periti, Giulia</creatorcontrib><creatorcontrib>Baldassarri, Margherita</creatorcontrib><creatorcontrib>Ariani, Francesca</creatorcontrib><creatorcontrib>Carrer, Anna</creatorcontrib><creatorcontrib>Pelusi, Serena</creatorcontrib><creatorcontrib>Renieri, Alessandra</creatorcontrib><creatorcontrib>Prati, Daniele</creatorcontrib><creatorcontrib>Valenti, Luca</creatorcontrib><jtitle>Genes</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ronzoni, Luisa</au><au>Mureddu, Matteo</au><au>Malvestiti, Francesco</au><au>Moretti, Vittoria</au><au>Bianco, Cristiana</au><au>Periti, Giulia</au><au>Baldassarri, Margherita</au><au>Ariani, Francesca</au><au>Carrer, Anna</au><au>Pelusi, Serena</au><au>Renieri, Alessandra</au><au>Prati, Daniele</au><au>Valenti, Luca</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Liver Involvement in Patients with Rare IMBOAT7/I Variants and Intellectual Disability: A Case Report and Literature Review</atitle><jtitle>Genes</jtitle><date>2023-08-01</date><risdate>2023</risdate><volume>14</volume><issue>8</issue><issn>2073-4425</issn><eissn>2073-4425</eissn><abstract>The membrane-bound O-acyltransferase domain-containing 7 (MBOAT7) protein is an acyltransferase catalyzing arachidonic acid incorporation into lysophosphatidylinositol. Patients with rare, biallelic loss-of-function variants of the MBOAT7 gene display intellectual disability with neurodevelopmental defects. The rs641738 inherited variant associated with reduced hepatic MBOAT7 expression has been linked to steatotic liver disease susceptibility. However, the impact of biallelic loss-of-function MBOAT7 variants on liver disease is not known. We report on a 2-year-old girl with MBOAT7-related intellectual disability and steatotic liver disease, confirming that MBOAT7 loss-of-function predisposes to liver disease.</abstract><pub>MDPI AG</pub><doi>10.3390/genes14081633</doi></addata></record> |
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| source | PubMed Central Open Access; MDPI - Multidisciplinary Digital Publishing Institute; EZB-FREE-00999 freely available EZB journals; PubMed Central |
| subjects | Disease susceptibility Lipids Liver Liver diseases |
| title | Liver Involvement in Patients with Rare IMBOAT7/I Variants and Intellectual Disability: A Case Report and Literature Review |
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