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Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population
AbstractIntroduction and ObjectivesNiemann-Pick disease type A (NPD-A) and B (NPD-B) are lysosomal storage diseases with a birth prevalence of 0.4–0.6/100,000. They are caused by a deficiency in acid sphingomyelinase, an enzyme encoded by SMPD1. We analyzed the phenotype and genotype of four unrelat...
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Published in: | Annals of hepatology 2019-07, Vol.18 (4), p.613-619 |
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creator | Cerón-Rodríguez, Magdalena Vázquez-Martínez, Edgar Ricardo García-Delgado, Constanza Ortega-Vázquez, Alberto Valencia-Mayoral, Pedro Ramírez-Devars, Lyuva Arias-Villegas, Christian Monroy-Muñoz, Irma Eloísa López, Marisol Cervantes, Alicia Cerbón, Marco Morán-Barroso, Verónica Fabiola |
description | AbstractIntroduction and ObjectivesNiemann-Pick disease type A (NPD-A) and B (NPD-B) are lysosomal storage diseases with a birth prevalence of 0.4–0.6/100,000. They are caused by a deficiency in acid sphingomyelinase, an enzyme encoded by SMPD1. We analyzed the phenotype and genotype of four unrelated Mexican patients, one with NPD-A and three with NPD-B. Patients and methodsFour female patients between 1 and 7 years of age were diagnosed with NPD-A or NPD-B by hepatosplenomegaly, among other clinical characteristics, and by determining the level of acid sphingomyelinase enzymatic activity and sequencing of the SMPD1 gene. Additionally, a 775 bp amplicon of SMPD1 (from 11:6393835_6394609, including exons 5 and 6) was analyzed by capillary sequencing in a control group of 50 unrelated healthy Mexican Mestizos. ResultsAn infrequent variant (c.1343A>G p.Tyr448Cys) was observed in two patients. One is the first NPD-A homozygous patient reported with this variant and the other a compound heterozygous NPD-B patient with the c.1829_1831delGCC p.Arg610del variant. Another compound heterozygous patient had the c.1547A>G p.His516Arg variant (not previously described in affected individuals) along with the c.1805G>A p.Arg602His variant. A new c.1263+8C>T pathogenic variant was encountered in a homozygous state in a NPD-B patient. Among the healthy control individuals there was a heterozygous carrier for the c.1550A>T (rs142787001) pathogenic variant, but none with the known pathogenic variants in the 11:6393835_6394609 region of SMPD1. ConclusionsThe present study provides further NPD-A or B phenotype-genotype correlations. We detected a heterozygous carrier with a pathogenic variant in 1/50 healthy Mexican mestizos. |
doi_str_mv | 10.1016/j.aohep.2018.12.004 |
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They are caused by a deficiency in acid sphingomyelinase, an enzyme encoded by SMPD1. We analyzed the phenotype and genotype of four unrelated Mexican patients, one with NPD-A and three with NPD-B. Patients and methodsFour female patients between 1 and 7 years of age were diagnosed with NPD-A or NPD-B by hepatosplenomegaly, among other clinical characteristics, and by determining the level of acid sphingomyelinase enzymatic activity and sequencing of the SMPD1 gene. Additionally, a 775 bp amplicon of SMPD1 (from 11:6393835_6394609, including exons 5 and 6) was analyzed by capillary sequencing in a control group of 50 unrelated healthy Mexican Mestizos. ResultsAn infrequent variant (c.1343A>G p.Tyr448Cys) was observed in two patients. One is the first NPD-A homozygous patient reported with this variant and the other a compound heterozygous NPD-B patient with the c.1829_1831delGCC p.Arg610del variant. Another compound heterozygous patient had the c.1547A>G p.His516Arg variant (not previously described in affected individuals) along with the c.1805G>A p.Arg602His variant. A new c.1263+8C>T pathogenic variant was encountered in a homozygous state in a NPD-B patient. Among the healthy control individuals there was a heterozygous carrier for the c.1550A>T (rs142787001) pathogenic variant, but none with the known pathogenic variants in the 11:6393835_6394609 region of SMPD1. ConclusionsThe present study provides further NPD-A or B phenotype-genotype correlations. We detected a heterozygous carrier with a pathogenic variant in 1/50 healthy Mexican mestizos.</description><identifier>ISSN: 1665-2681</identifier><identifier>DOI: 10.1016/j.aohep.2018.12.004</identifier><identifier>PMID: 31122880</identifier><language>eng</language><publisher>Mexico: Elsevier</publisher><subject>Acid sphingomyelinase deficiency ; Gastroenterology and Hepatology ; Lysosomal storage diseases</subject><ispartof>Annals of hepatology, 2019-07, Vol.18 (4), p.613-619</ispartof><rights>Fundación Clínica Médica Sur, A.C.</rights><rights>Copyright © 2019 Fundación Clínica Médica Sur, A.C. Published by Elsevier España, S.L.U. All rights reserved.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c471t-c8ec762c2fd8679ba2f0bee9e81944e875318afb6af8f76e8b303427964030193</citedby><cites>FETCH-LOGICAL-c471t-c8ec762c2fd8679ba2f0bee9e81944e875318afb6af8f76e8b303427964030193</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/31122880$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Cerón-Rodríguez, Magdalena</creatorcontrib><creatorcontrib>Vázquez-Martínez, Edgar Ricardo</creatorcontrib><creatorcontrib>García-Delgado, Constanza</creatorcontrib><creatorcontrib>Ortega-Vázquez, Alberto</creatorcontrib><creatorcontrib>Valencia-Mayoral, Pedro</creatorcontrib><creatorcontrib>Ramírez-Devars, Lyuva</creatorcontrib><creatorcontrib>Arias-Villegas, Christian</creatorcontrib><creatorcontrib>Monroy-Muñoz, Irma Eloísa</creatorcontrib><creatorcontrib>López, Marisol</creatorcontrib><creatorcontrib>Cervantes, Alicia</creatorcontrib><creatorcontrib>Cerbón, Marco</creatorcontrib><creatorcontrib>Morán-Barroso, Verónica Fabiola</creatorcontrib><title>Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population</title><title>Annals of hepatology</title><addtitle>Ann Hepatol</addtitle><description>AbstractIntroduction and ObjectivesNiemann-Pick disease type A (NPD-A) and B (NPD-B) are lysosomal storage diseases with a birth prevalence of 0.4–0.6/100,000. They are caused by a deficiency in acid sphingomyelinase, an enzyme encoded by SMPD1. We analyzed the phenotype and genotype of four unrelated Mexican patients, one with NPD-A and three with NPD-B. Patients and methodsFour female patients between 1 and 7 years of age were diagnosed with NPD-A or NPD-B by hepatosplenomegaly, among other clinical characteristics, and by determining the level of acid sphingomyelinase enzymatic activity and sequencing of the SMPD1 gene. Additionally, a 775 bp amplicon of SMPD1 (from 11:6393835_6394609, including exons 5 and 6) was analyzed by capillary sequencing in a control group of 50 unrelated healthy Mexican Mestizos. ResultsAn infrequent variant (c.1343A>G p.Tyr448Cys) was observed in two patients. One is the first NPD-A homozygous patient reported with this variant and the other a compound heterozygous NPD-B patient with the c.1829_1831delGCC p.Arg610del variant. Another compound heterozygous patient had the c.1547A>G p.His516Arg variant (not previously described in affected individuals) along with the c.1805G>A p.Arg602His variant. A new c.1263+8C>T pathogenic variant was encountered in a homozygous state in a NPD-B patient. Among the healthy control individuals there was a heterozygous carrier for the c.1550A>T (rs142787001) pathogenic variant, but none with the known pathogenic variants in the 11:6393835_6394609 region of SMPD1. ConclusionsThe present study provides further NPD-A or B phenotype-genotype correlations. We detected a heterozygous carrier with a pathogenic variant in 1/50 healthy Mexican mestizos.</description><subject>Acid sphingomyelinase deficiency</subject><subject>Gastroenterology and Hepatology</subject><subject>Lysosomal storage diseases</subject><issn>1665-2681</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><sourceid>DOA</sourceid><recordid>eNo9kUFv1DAUhHMA0bLwC5CQj1w2-NmJ41yQSgulUguVCmfLcZ6p06wd7ASx_77ObunJ0mjejDxfUbwDWgIF8XEodbjHqWQUZAmspLR6UZyCEPWWCQknxeuUhizyGtir4oQDMCYlPS2W7w532vvtrTMPpHcJdUJyRkIkn4nzxIYlkgl7p-foDJn07NDPiWjfk7ub2wsgu2XOYvDE6BgdRmIj_lnQm_16P98jucF_zmhPpjAt48H7pnhp9Zjw7dO7KX59_fLz_Nv2-sfl1fnZ9dZUDcxbI9E0ghlmeymattPM0g6xRQltVaFsag5S205oK20jUHac8oo1ragop9DyTXF1zO2DHtQU3U7HvQraqYMQ4m-l4-zMiIpJQVvOe4DWVpJCV9u2bivZoLa2kSZnfThmTTHk_6VZ7VwyOI7aY1iSYowzyO2iylZ-tJoYUopon6uBqpWXGtSBl1p5KWBqRbMp3j8VLN0O--eb_7Cy4dPRgHmyv3lqZUbn87TjA-4xDRmVz2sqUCknqrsV_0o_D0FpLSh_BOjfqH4</recordid><startdate>20190701</startdate><enddate>20190701</enddate><creator>Cerón-Rodríguez, Magdalena</creator><creator>Vázquez-Martínez, Edgar Ricardo</creator><creator>García-Delgado, Constanza</creator><creator>Ortega-Vázquez, Alberto</creator><creator>Valencia-Mayoral, Pedro</creator><creator>Ramírez-Devars, Lyuva</creator><creator>Arias-Villegas, Christian</creator><creator>Monroy-Muñoz, Irma Eloísa</creator><creator>López, Marisol</creator><creator>Cervantes, Alicia</creator><creator>Cerbón, Marco</creator><creator>Morán-Barroso, Verónica Fabiola</creator><general>Elsevier</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>DOA</scope></search><sort><creationdate>20190701</creationdate><title>Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population</title><author>Cerón-Rodríguez, Magdalena ; Vázquez-Martínez, Edgar Ricardo ; García-Delgado, Constanza ; Ortega-Vázquez, Alberto ; Valencia-Mayoral, Pedro ; Ramírez-Devars, Lyuva ; Arias-Villegas, Christian ; Monroy-Muñoz, Irma Eloísa ; López, Marisol ; Cervantes, Alicia ; Cerbón, Marco ; Morán-Barroso, Verónica Fabiola</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c471t-c8ec762c2fd8679ba2f0bee9e81944e875318afb6af8f76e8b303427964030193</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>Acid sphingomyelinase deficiency</topic><topic>Gastroenterology and Hepatology</topic><topic>Lysosomal storage diseases</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Cerón-Rodríguez, Magdalena</creatorcontrib><creatorcontrib>Vázquez-Martínez, Edgar Ricardo</creatorcontrib><creatorcontrib>García-Delgado, Constanza</creatorcontrib><creatorcontrib>Ortega-Vázquez, Alberto</creatorcontrib><creatorcontrib>Valencia-Mayoral, Pedro</creatorcontrib><creatorcontrib>Ramírez-Devars, Lyuva</creatorcontrib><creatorcontrib>Arias-Villegas, Christian</creatorcontrib><creatorcontrib>Monroy-Muñoz, Irma Eloísa</creatorcontrib><creatorcontrib>López, Marisol</creatorcontrib><creatorcontrib>Cervantes, Alicia</creatorcontrib><creatorcontrib>Cerbón, Marco</creatorcontrib><creatorcontrib>Morán-Barroso, Verónica Fabiola</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>Directory of Open Access Journals</collection><jtitle>Annals of hepatology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Cerón-Rodríguez, Magdalena</au><au>Vázquez-Martínez, Edgar Ricardo</au><au>García-Delgado, Constanza</au><au>Ortega-Vázquez, Alberto</au><au>Valencia-Mayoral, Pedro</au><au>Ramírez-Devars, Lyuva</au><au>Arias-Villegas, Christian</au><au>Monroy-Muñoz, Irma Eloísa</au><au>López, Marisol</au><au>Cervantes, Alicia</au><au>Cerbón, Marco</au><au>Morán-Barroso, Verónica Fabiola</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population</atitle><jtitle>Annals of hepatology</jtitle><addtitle>Ann Hepatol</addtitle><date>2019-07-01</date><risdate>2019</risdate><volume>18</volume><issue>4</issue><spage>613</spage><epage>619</epage><pages>613-619</pages><issn>1665-2681</issn><abstract>AbstractIntroduction and ObjectivesNiemann-Pick disease type A (NPD-A) and B (NPD-B) are lysosomal storage diseases with a birth prevalence of 0.4–0.6/100,000. They are caused by a deficiency in acid sphingomyelinase, an enzyme encoded by SMPD1. We analyzed the phenotype and genotype of four unrelated Mexican patients, one with NPD-A and three with NPD-B. Patients and methodsFour female patients between 1 and 7 years of age were diagnosed with NPD-A or NPD-B by hepatosplenomegaly, among other clinical characteristics, and by determining the level of acid sphingomyelinase enzymatic activity and sequencing of the SMPD1 gene. Additionally, a 775 bp amplicon of SMPD1 (from 11:6393835_6394609, including exons 5 and 6) was analyzed by capillary sequencing in a control group of 50 unrelated healthy Mexican Mestizos. ResultsAn infrequent variant (c.1343A>G p.Tyr448Cys) was observed in two patients. One is the first NPD-A homozygous patient reported with this variant and the other a compound heterozygous NPD-B patient with the c.1829_1831delGCC p.Arg610del variant. Another compound heterozygous patient had the c.1547A>G p.His516Arg variant (not previously described in affected individuals) along with the c.1805G>A p.Arg602His variant. A new c.1263+8C>T pathogenic variant was encountered in a homozygous state in a NPD-B patient. Among the healthy control individuals there was a heterozygous carrier for the c.1550A>T (rs142787001) pathogenic variant, but none with the known pathogenic variants in the 11:6393835_6394609 region of SMPD1. ConclusionsThe present study provides further NPD-A or B phenotype-genotype correlations. We detected a heterozygous carrier with a pathogenic variant in 1/50 healthy Mexican mestizos.</abstract><cop>Mexico</cop><pub>Elsevier</pub><pmid>31122880</pmid><doi>10.1016/j.aohep.2018.12.004</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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subjects | Acid sphingomyelinase deficiency Gastroenterology and Hepatology Lysosomal storage diseases |
title | Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population |
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