Screening and mutation analysis of hyperphenylalaninemia in newborns from Xiamen, China

In this study, we evaluated the incidence and genetic characteristics of hyperphenylalaninemia (HPA) in Xiamen, China. We analyzed the newborn screening data of HPA, obtained using a fluorometric method and tandem mass spectrometry (MS/MS), from 2013 to 2017. The suspected positive samples were furt...

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Veröffentlicht in:Clinica chimica acta 2019-11, Vol.498, p.161-166
Hauptverfasser: Wang, Xudong, He, Ying, Jiang, Yancheng, Feng, Xiaomei, Zhang, Guowang, Xia, Zhongmin, Zhou, Yulin
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container_title Clinica chimica acta
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creator Wang, Xudong
He, Ying
Jiang, Yancheng
Feng, Xiaomei
Zhang, Guowang
Xia, Zhongmin
Zhou, Yulin
description In this study, we evaluated the incidence and genetic characteristics of hyperphenylalaninemia (HPA) in Xiamen, China. We analyzed the newborn screening data of HPA, obtained using a fluorometric method and tandem mass spectrometry (MS/MS), from 2013 to 2017. The suspected positive samples were further diagnosed using MassArray technology, multiplex ligation-dependent probe amplification (MLPA), and Sanger sequencing. A total of 418,831 newborns were screened, of whom 19 were diagnosed as HPA patients, with an incidence of 1:22,044. Of these HPA patients, 15 tested positive for phenylketonuria (PKU, 1:27922), and 4 tested positive for tetrahydrobiopterin deficiency (BH4D, 1:104,708). A total of 17 mutations were identified among 38 alleles in the 19 patients, with a detection rate of 94.74%, including 13 PAH and 4 PTS mutations. Among these, the c.721C>T, c.728G>A, c.1197A>T, c.611A>G and c.331C>T mutations, and the c.259C>T and c.155A>G mutations were the most prevalent PAH and PTS mutations in Xiamen, respectively. Therefore, this study systematically demonstrated the incidence and mutation spectrum of HPA in Xiamen. This information would contribute to genetic counseling, prenatal diagnosis, and management of HPA patients. Moreover, combining MS/MS technology with molecular genetic diagnosis is an effective strategy for future newborn HPA screening in Xiamen. •The incidence of hyperphenylalaninemia (HPA) in Xiamen is about 1 in 22,044 newborns.•The overall incidence of phenylketonuria (PKU) is 1:27922 in Xiamen.•Tetrahydrobiopterin deficiency (BH4D) has an incidence of 1:104,708 in Xiamen.•The study has clearly elucidated the mutations of PAH and PTS gene in this region.
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We analyzed the newborn screening data of HPA, obtained using a fluorometric method and tandem mass spectrometry (MS/MS), from 2013 to 2017. The suspected positive samples were further diagnosed using MassArray technology, multiplex ligation-dependent probe amplification (MLPA), and Sanger sequencing. A total of 418,831 newborns were screened, of whom 19 were diagnosed as HPA patients, with an incidence of 1:22,044. Of these HPA patients, 15 tested positive for phenylketonuria (PKU, 1:27922), and 4 tested positive for tetrahydrobiopterin deficiency (BH4D, 1:104,708). A total of 17 mutations were identified among 38 alleles in the 19 patients, with a detection rate of 94.74%, including 13 PAH and 4 PTS mutations. Among these, the c.721C&gt;T, c.728G&gt;A, c.1197A&gt;T, c.611A&gt;G and c.331C&gt;T mutations, and the c.259C&gt;T and c.155A&gt;G mutations were the most prevalent PAH and PTS mutations in Xiamen, respectively. Therefore, this study systematically demonstrated the incidence and mutation spectrum of HPA in Xiamen. This information would contribute to genetic counseling, prenatal diagnosis, and management of HPA patients. Moreover, combining MS/MS technology with molecular genetic diagnosis is an effective strategy for future newborn HPA screening in Xiamen. •The incidence of hyperphenylalaninemia (HPA) in Xiamen is about 1 in 22,044 newborns.•The overall incidence of phenylketonuria (PKU) is 1:27922 in Xiamen.•Tetrahydrobiopterin deficiency (BH4D) has an incidence of 1:104,708 in Xiamen.•The study has clearly elucidated the mutations of PAH and PTS gene in this region.</description><identifier>ISSN: 0009-8981</identifier><identifier>EISSN: 1873-3492</identifier><identifier>DOI: 10.1016/j.cca.2019.08.021</identifier><identifier>PMID: 31445982</identifier><language>eng</language><publisher>Netherlands: Elsevier B.V</publisher><subject>China - epidemiology ; DNA Mutational Analysis - methods ; Fluorometry - methods ; Humans ; Hyperphenylalaninemia ; Incidence ; Infant, Newborn ; Mass Screening - methods ; Molecular Epidemiology ; Mutation ; Mutation spectrum ; Neonatal Screening - methods ; Newborn screening ; Phenylketonurias - diagnosis ; Phenylketonurias - genetics ; Sequence Analysis, DNA ; Tandem mass spectrometry ; Tandem Mass Spectrometry - methods ; Xiamen</subject><ispartof>Clinica chimica acta, 2019-11, Vol.498, p.161-166</ispartof><rights>2019 Elsevier B.V.</rights><rights>Copyright © 2019 Elsevier B.V. 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Therefore, this study systematically demonstrated the incidence and mutation spectrum of HPA in Xiamen. This information would contribute to genetic counseling, prenatal diagnosis, and management of HPA patients. Moreover, combining MS/MS technology with molecular genetic diagnosis is an effective strategy for future newborn HPA screening in Xiamen. •The incidence of hyperphenylalaninemia (HPA) in Xiamen is about 1 in 22,044 newborns.•The overall incidence of phenylketonuria (PKU) is 1:27922 in Xiamen.•Tetrahydrobiopterin deficiency (BH4D) has an incidence of 1:104,708 in Xiamen.•The study has clearly elucidated the mutations of PAH and PTS gene in this region.</description><subject>China - epidemiology</subject><subject>DNA Mutational Analysis - methods</subject><subject>Fluorometry - methods</subject><subject>Humans</subject><subject>Hyperphenylalaninemia</subject><subject>Incidence</subject><subject>Infant, Newborn</subject><subject>Mass Screening - methods</subject><subject>Molecular Epidemiology</subject><subject>Mutation</subject><subject>Mutation spectrum</subject><subject>Neonatal Screening - methods</subject><subject>Newborn screening</subject><subject>Phenylketonurias - diagnosis</subject><subject>Phenylketonurias - genetics</subject><subject>Sequence Analysis, DNA</subject><subject>Tandem mass spectrometry</subject><subject>Tandem Mass Spectrometry - methods</subject><subject>Xiamen</subject><issn>0009-8981</issn><issn>1873-3492</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kE1rGzEQhkVoqF23PyCXomMP3Y1GWu1K5BRM-gGBHJKQ3oSsna1ldrWOtE7wv4-MnR57GIaBZ15mHkIugJXAoL7clM7ZkjPQJVMl43BG5qAaUYhK8w9kzhjThdIKZuRTSps8VqyGj2QmoKqkVnxOnu5dRAw-_KU2tHTYTXbyY8iD7ffJJzp2dL3fYtyuMex729vM4uAt9YEGfF2NMSTaxXGgf7wdMHyny7UP9jM572yf8MupL8jjj5uH5a_i9u7n7-X1beGEFFNRyapytZNcrjRXsmm5lgpdLSzoWnQg21yqswCu0fn2TkLTQKukkJVYgRYL8u2Yu43j8w7TZAafHPb5Thx3yXCumJQKlMooHFEXx5QidmYb_WDj3gAzB59mY7JPc_BpmDLZZ975eorfrQZs_228C8zA1RHA_OSLx2iS8xgctj6im0w7-v_EvwEibYTC</recordid><startdate>201911</startdate><enddate>201911</enddate><creator>Wang, Xudong</creator><creator>He, Ying</creator><creator>Jiang, Yancheng</creator><creator>Feng, Xiaomei</creator><creator>Zhang, Guowang</creator><creator>Xia, Zhongmin</creator><creator>Zhou, Yulin</creator><general>Elsevier B.V</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></search><sort><creationdate>201911</creationdate><title>Screening and mutation analysis of hyperphenylalaninemia in newborns from Xiamen, China</title><author>Wang, Xudong ; He, Ying ; Jiang, Yancheng ; Feng, Xiaomei ; Zhang, Guowang ; Xia, Zhongmin ; Zhou, Yulin</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c353t-4544c6c525b92857d2958ec63a1963f15df158fa11c79061f51771d853543b193</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>China - epidemiology</topic><topic>DNA Mutational Analysis - methods</topic><topic>Fluorometry - methods</topic><topic>Humans</topic><topic>Hyperphenylalaninemia</topic><topic>Incidence</topic><topic>Infant, Newborn</topic><topic>Mass Screening - methods</topic><topic>Molecular Epidemiology</topic><topic>Mutation</topic><topic>Mutation spectrum</topic><topic>Neonatal Screening - methods</topic><topic>Newborn screening</topic><topic>Phenylketonurias - diagnosis</topic><topic>Phenylketonurias - genetics</topic><topic>Sequence Analysis, DNA</topic><topic>Tandem mass spectrometry</topic><topic>Tandem Mass Spectrometry - methods</topic><topic>Xiamen</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Wang, Xudong</creatorcontrib><creatorcontrib>He, Ying</creatorcontrib><creatorcontrib>Jiang, Yancheng</creatorcontrib><creatorcontrib>Feng, Xiaomei</creatorcontrib><creatorcontrib>Zhang, Guowang</creatorcontrib><creatorcontrib>Xia, Zhongmin</creatorcontrib><creatorcontrib>Zhou, Yulin</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>Clinica chimica acta</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Wang, Xudong</au><au>He, Ying</au><au>Jiang, Yancheng</au><au>Feng, Xiaomei</au><au>Zhang, Guowang</au><au>Xia, Zhongmin</au><au>Zhou, Yulin</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Screening and mutation analysis of hyperphenylalaninemia in newborns from Xiamen, China</atitle><jtitle>Clinica chimica acta</jtitle><addtitle>Clin Chim Acta</addtitle><date>2019-11</date><risdate>2019</risdate><volume>498</volume><spage>161</spage><epage>166</epage><pages>161-166</pages><issn>0009-8981</issn><eissn>1873-3492</eissn><abstract>In this study, we evaluated the incidence and genetic characteristics of hyperphenylalaninemia (HPA) in Xiamen, China. 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Therefore, this study systematically demonstrated the incidence and mutation spectrum of HPA in Xiamen. This information would contribute to genetic counseling, prenatal diagnosis, and management of HPA patients. Moreover, combining MS/MS technology with molecular genetic diagnosis is an effective strategy for future newborn HPA screening in Xiamen. •The incidence of hyperphenylalaninemia (HPA) in Xiamen is about 1 in 22,044 newborns.•The overall incidence of phenylketonuria (PKU) is 1:27922 in Xiamen.•Tetrahydrobiopterin deficiency (BH4D) has an incidence of 1:104,708 in Xiamen.•The study has clearly elucidated the mutations of PAH and PTS gene in this region.</abstract><cop>Netherlands</cop><pub>Elsevier B.V</pub><pmid>31445982</pmid><doi>10.1016/j.cca.2019.08.021</doi><tpages>6</tpages></addata></record>
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subjects China - epidemiology
DNA Mutational Analysis - methods
Fluorometry - methods
Humans
Hyperphenylalaninemia
Incidence
Infant, Newborn
Mass Screening - methods
Molecular Epidemiology
Mutation
Mutation spectrum
Neonatal Screening - methods
Newborn screening
Phenylketonurias - diagnosis
Phenylketonurias - genetics
Sequence Analysis, DNA
Tandem mass spectrometry
Tandem Mass Spectrometry - methods
Xiamen
title Screening and mutation analysis of hyperphenylalaninemia in newborns from Xiamen, China
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