MYO5B mutations cause cholestasis with normal serum gamma‐glutamyl transferase activity in children without microvillous inclusion disease
Some patients with microvillus inclusion disease due to myosin 5B (MYO5B) mutations may develop cholestasis characterized by a progressive familial intrahepatic cholestasis‐like phenotype with normal serum gamma‐glutamyl transferase activity. So far MYO5B deficiency has not been reported in patients...
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| Veröffentlicht in: | Hepatology (Baltimore, Md.) Md.), 2017-01, Vol.65 (1), p.164-173 |
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| container_title | Hepatology (Baltimore, Md.) |
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| creator | Gonzales, Emmanuel Taylor, Sarah A. Davit‐Spraul, Anne Thébaut, Alice Thomassin, Nadège Guettier, Catherine Whitington, Peter F. Jacquemin, Emmanuel |
| description | Some patients with microvillus inclusion disease due to myosin 5B (MYO5B) mutations may develop cholestasis characterized by a progressive familial intrahepatic cholestasis‐like phenotype with normal serum gamma‐glutamyl transferase activity. So far MYO5B deficiency has not been reported in patients with such a cholestasis phenotype in the absence of intestinal disease. Using a new‐generation sequencing approach, we identified MYO5B mutations in five patients with progressive familial intrahepatic cholestasis‐like phenotype with normal serum gamma‐glutamyl transferase activity without intestinal disease. Conclusion: These data show that MYO5B deficiency may lead to isolated cholestasis and that MYO5B should be considered as an additional progressive familial intrahepatic cholestasis gene. (Hepatology 2017;65:164‐173). |
| doi_str_mv | 10.1002/hep.28779 |
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So far MYO5B deficiency has not been reported in patients with such a cholestasis phenotype in the absence of intestinal disease. Using a new‐generation sequencing approach, we identified MYO5B mutations in five patients with progressive familial intrahepatic cholestasis‐like phenotype with normal serum gamma‐glutamyl transferase activity without intestinal disease. Conclusion: These data show that MYO5B deficiency may lead to isolated cholestasis and that MYO5B should be considered as an additional progressive familial intrahepatic cholestasis gene. (Hepatology 2017;65:164‐173).</description><identifier>ISSN: 0270-9139</identifier><identifier>EISSN: 1527-3350</identifier><identifier>DOI: 10.1002/hep.28779</identifier><identifier>PMID: 27532546</identifier><identifier>CODEN: HPTLD9</identifier><language>eng</language><publisher>United States: Wiley Subscription Services, Inc</publisher><subject>Children ; Cholestasis ; Cholestasis, Intrahepatic - blood ; Cholestasis, Intrahepatic - enzymology ; Cholestasis, Intrahepatic - genetics ; Cytomegalovirus ; Female ; Gallbladder diseases ; gamma-Glutamyltransferase - blood ; Genotype & phenotype ; Hepatology ; Humans ; Infant ; Intestine ; Malabsorption Syndromes ; Male ; Microvilli - pathology ; Microvillus ; Mucolipidoses ; Mutation ; Myosin ; Myosin Heavy Chains - genetics ; Myosin Type V - genetics ; γ-Glutamyltransferase</subject><ispartof>Hepatology (Baltimore, Md.), 2017-01, Vol.65 (1), p.164-173</ispartof><rights>2016 by the American Association for the Study of Liver Diseases.</rights><rights>2017 by the American Association for the Study of Liver Diseases</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3839-eb2197d7bcf69e479f11acd77cf0aaeff42c346e6c588153e2af7306b124dfb73</citedby><cites>FETCH-LOGICAL-c3839-eb2197d7bcf69e479f11acd77cf0aaeff42c346e6c588153e2af7306b124dfb73</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fhep.28779$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fhep.28779$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>315,782,786,1419,27933,27934,45583,45584</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/27532546$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Gonzales, Emmanuel</creatorcontrib><creatorcontrib>Taylor, Sarah A.</creatorcontrib><creatorcontrib>Davit‐Spraul, Anne</creatorcontrib><creatorcontrib>Thébaut, Alice</creatorcontrib><creatorcontrib>Thomassin, Nadège</creatorcontrib><creatorcontrib>Guettier, Catherine</creatorcontrib><creatorcontrib>Whitington, Peter F.</creatorcontrib><creatorcontrib>Jacquemin, Emmanuel</creatorcontrib><title>MYO5B mutations cause cholestasis with normal serum gamma‐glutamyl transferase activity in children without microvillous inclusion disease</title><title>Hepatology (Baltimore, Md.)</title><addtitle>Hepatology</addtitle><description>Some patients with microvillus inclusion disease due to myosin 5B (MYO5B) mutations may develop cholestasis characterized by a progressive familial intrahepatic cholestasis‐like phenotype with normal serum gamma‐glutamyl transferase activity. So far MYO5B deficiency has not been reported in patients with such a cholestasis phenotype in the absence of intestinal disease. Using a new‐generation sequencing approach, we identified MYO5B mutations in five patients with progressive familial intrahepatic cholestasis‐like phenotype with normal serum gamma‐glutamyl transferase activity without intestinal disease. Conclusion: These data show that MYO5B deficiency may lead to isolated cholestasis and that MYO5B should be considered as an additional progressive familial intrahepatic cholestasis gene. (Hepatology 2017;65:164‐173).</description><subject>Children</subject><subject>Cholestasis</subject><subject>Cholestasis, Intrahepatic - blood</subject><subject>Cholestasis, Intrahepatic - enzymology</subject><subject>Cholestasis, Intrahepatic - genetics</subject><subject>Cytomegalovirus</subject><subject>Female</subject><subject>Gallbladder diseases</subject><subject>gamma-Glutamyltransferase - blood</subject><subject>Genotype & phenotype</subject><subject>Hepatology</subject><subject>Humans</subject><subject>Infant</subject><subject>Intestine</subject><subject>Malabsorption Syndromes</subject><subject>Male</subject><subject>Microvilli - pathology</subject><subject>Microvillus</subject><subject>Mucolipidoses</subject><subject>Mutation</subject><subject>Myosin</subject><subject>Myosin Heavy Chains - genetics</subject><subject>Myosin Type V - genetics</subject><subject>γ-Glutamyltransferase</subject><issn>0270-9139</issn><issn>1527-3350</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kbtO7DAURS10EQyPgh9Alm5FEfAjjuMSRrwkEBRQUEWOYzNGdjLXjkHT8QEUfCNfgmHgdlCdZu21dbQB2MFoHyNEDmZ6vk9qzsUKmGBGeEEpQ3_ABBGOCoGpWAcbMT4ghERJ6jWwTjijhJXVBLxc3l2xI-jTKEc79BEqmaKGajY4HUcZbYRPdpzBfgheOhh1SB7eS-_l2_Prvcsxv3BwDLKPRgeZo1KN9tGOC2j7rLGuC7r_dAxphN6qMDxa54YUM6BcirkVdjbqnN0Cq0a6qLe_7ia4PTm-mZ4VF1en59PDi0LRmopCtwQL3vFWmUrokguDsVQd58ogKbUxJVG0rHSlWF1jRjWRhlNUtZiUnWk53QR_l955GP6l_GfzMKTQ58oGC1SVJaoQ-pWqGRGCE0Yytbek8mMxBm2aebBehkWDUfOxTpPXaT7XyezulzG1Xnf_ye85MnCwBJ6s04ufTc3Z8fVS-Q6ty52O</recordid><startdate>201701</startdate><enddate>201701</enddate><creator>Gonzales, Emmanuel</creator><creator>Taylor, Sarah A.</creator><creator>Davit‐Spraul, Anne</creator><creator>Thébaut, Alice</creator><creator>Thomassin, Nadège</creator><creator>Guettier, Catherine</creator><creator>Whitington, Peter F.</creator><creator>Jacquemin, Emmanuel</creator><general>Wiley Subscription Services, Inc</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>7T5</scope><scope>7TM</scope><scope>7TO</scope><scope>7U9</scope><scope>H94</scope><scope>K9.</scope></search><sort><creationdate>201701</creationdate><title>MYO5B mutations cause cholestasis with normal serum gamma‐glutamyl transferase activity in children without microvillous inclusion disease</title><author>Gonzales, Emmanuel ; Taylor, Sarah A. ; Davit‐Spraul, Anne ; Thébaut, Alice ; Thomassin, Nadège ; Guettier, Catherine ; Whitington, Peter F. ; Jacquemin, Emmanuel</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3839-eb2197d7bcf69e479f11acd77cf0aaeff42c346e6c588153e2af7306b124dfb73</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Children</topic><topic>Cholestasis</topic><topic>Cholestasis, Intrahepatic - blood</topic><topic>Cholestasis, Intrahepatic - enzymology</topic><topic>Cholestasis, Intrahepatic - genetics</topic><topic>Cytomegalovirus</topic><topic>Female</topic><topic>Gallbladder diseases</topic><topic>gamma-Glutamyltransferase - blood</topic><topic>Genotype & phenotype</topic><topic>Hepatology</topic><topic>Humans</topic><topic>Infant</topic><topic>Intestine</topic><topic>Malabsorption Syndromes</topic><topic>Male</topic><topic>Microvilli - pathology</topic><topic>Microvillus</topic><topic>Mucolipidoses</topic><topic>Mutation</topic><topic>Myosin</topic><topic>Myosin Heavy Chains - genetics</topic><topic>Myosin Type V - genetics</topic><topic>γ-Glutamyltransferase</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Gonzales, Emmanuel</creatorcontrib><creatorcontrib>Taylor, Sarah A.</creatorcontrib><creatorcontrib>Davit‐Spraul, Anne</creatorcontrib><creatorcontrib>Thébaut, Alice</creatorcontrib><creatorcontrib>Thomassin, Nadège</creatorcontrib><creatorcontrib>Guettier, Catherine</creatorcontrib><creatorcontrib>Whitington, Peter F.</creatorcontrib><creatorcontrib>Jacquemin, Emmanuel</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Oncogenes and Growth Factors Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><jtitle>Hepatology (Baltimore, Md.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Gonzales, Emmanuel</au><au>Taylor, Sarah A.</au><au>Davit‐Spraul, Anne</au><au>Thébaut, Alice</au><au>Thomassin, Nadège</au><au>Guettier, Catherine</au><au>Whitington, Peter F.</au><au>Jacquemin, Emmanuel</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>MYO5B mutations cause cholestasis with normal serum gamma‐glutamyl transferase activity in children without microvillous inclusion disease</atitle><jtitle>Hepatology (Baltimore, Md.)</jtitle><addtitle>Hepatology</addtitle><date>2017-01</date><risdate>2017</risdate><volume>65</volume><issue>1</issue><spage>164</spage><epage>173</epage><pages>164-173</pages><issn>0270-9139</issn><eissn>1527-3350</eissn><coden>HPTLD9</coden><abstract>Some patients with microvillus inclusion disease due to myosin 5B (MYO5B) mutations may develop cholestasis characterized by a progressive familial intrahepatic cholestasis‐like phenotype with normal serum gamma‐glutamyl transferase activity. So far MYO5B deficiency has not been reported in patients with such a cholestasis phenotype in the absence of intestinal disease. Using a new‐generation sequencing approach, we identified MYO5B mutations in five patients with progressive familial intrahepatic cholestasis‐like phenotype with normal serum gamma‐glutamyl transferase activity without intestinal disease. Conclusion: These data show that MYO5B deficiency may lead to isolated cholestasis and that MYO5B should be considered as an additional progressive familial intrahepatic cholestasis gene. (Hepatology 2017;65:164‐173).</abstract><cop>United States</cop><pub>Wiley Subscription Services, Inc</pub><pmid>27532546</pmid><doi>10.1002/hep.28779</doi><tpages>10</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Children Cholestasis Cholestasis, Intrahepatic - blood Cholestasis, Intrahepatic - enzymology Cholestasis, Intrahepatic - genetics Cytomegalovirus Female Gallbladder diseases gamma-Glutamyltransferase - blood Genotype & phenotype Hepatology Humans Infant Intestine Malabsorption Syndromes Male Microvilli - pathology Microvillus Mucolipidoses Mutation Myosin Myosin Heavy Chains - genetics Myosin Type V - genetics γ-Glutamyltransferase |
| title | MYO5B mutations cause cholestasis with normal serum gamma‐glutamyl transferase activity in children without microvillous inclusion disease |
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