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Spectrum of WAS gene mutations in Vietnamese patients with Wiskott–Aldrich syndrome
Background WAS gene mutational analysis is crucial to establish a definite diagnosis of Wiskott–Aldrich syndrome (WAS). Data on the genetic background of WAS in Vietnamese patients have not been reported. Methods We recruited 97 male, unrelated patients with WAS and analyzed WAS gene mutation using...
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| Published in: | Pediatrics international 2024-01, Vol.66 (1), p.e15770-n/a |
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| Main Authors: | , , , , , , , , , , |
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| container_start_page | e15770 |
| container_title | Pediatrics international |
| container_volume | 66 |
| creator | Chuong, Ho Quoc Xinh, Phan Thi Tram, Duong Bich Ha, Nguyen Thi Thanh Nguyen, Tuan Minh Anh, Phan Nguyen Lien Van, Nguyen Dinh Anh, Nguyen Hoang Mai Dung, Phu Chi Nghia, Huynh Vu, Hoang Anh |
| description | Background
WAS gene mutational analysis is crucial to establish a definite diagnosis of Wiskott–Aldrich syndrome (WAS). Data on the genetic background of WAS in Vietnamese patients have not been reported.
Methods
We recruited 97 male, unrelated patients with WAS and analyzed WAS gene mutation using Sanger sequencing technology.
Results
We identified 36 distinct hemizygous pathogenic mutations, with 17 novel variants, from 38 patients in the entire cohort (39.2%). The mutational spectrum included 14 missense, 12 indel, five nonsense, four splicing, and one non‐stop mutations. Most mutations appear only once, with the exception of c.37C>T (p.R13X) and c.374G>A (p.G125E) each of which occurs twice in unrelated patients.
Conclusion
Our data enrich the mutational spectrum of the WAS gene and are crucial for understanding the genetic background of WAS and for supporting genetic counseling. |
| doi_str_mv | 10.1111/ped.15770 |
| format | article |
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WAS gene mutational analysis is crucial to establish a definite diagnosis of Wiskott–Aldrich syndrome (WAS). Data on the genetic background of WAS in Vietnamese patients have not been reported.
Methods
We recruited 97 male, unrelated patients with WAS and analyzed WAS gene mutation using Sanger sequencing technology.
Results
We identified 36 distinct hemizygous pathogenic mutations, with 17 novel variants, from 38 patients in the entire cohort (39.2%). The mutational spectrum included 14 missense, 12 indel, five nonsense, four splicing, and one non‐stop mutations. Most mutations appear only once, with the exception of c.37C>T (p.R13X) and c.374G>A (p.G125E) each of which occurs twice in unrelated patients.
Conclusion
Our data enrich the mutational spectrum of the WAS gene and are crucial for understanding the genetic background of WAS and for supporting genetic counseling.</description><identifier>ISSN: 1328-8067</identifier><identifier>EISSN: 1442-200X</identifier><identifier>DOI: 10.1111/ped.15770</identifier><identifier>PMID: 38641933</identifier><language>eng</language><publisher>Australia: Blackwell Publishing Ltd</publisher><subject>DNA Mutational Analysis ; Genetic analysis ; Genetic counseling ; hemizygous mutation ; Humans ; Male ; Mutation ; novel variant ; Point mutation ; Vietnam ; Vietnamese ; WAS gene ; Wiskott-Aldrich syndrome ; Wiskott-Aldrich Syndrome - diagnosis ; Wiskott-Aldrich Syndrome - genetics ; Wiskott-Aldrich Syndrome Protein - genetics</subject><ispartof>Pediatrics international, 2024-01, Vol.66 (1), p.e15770-n/a</ispartof><rights>2024 Japan Pediatric Society.</rights><rights>2024 Japan Pediatric Society</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c3130-136bbc42eb49123aa1ce5c369439680f44de68bf6d21944770dabdb58acfbf33</cites><orcidid>0000-0003-4232-6001</orcidid></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/38641933$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Chuong, Ho Quoc</creatorcontrib><creatorcontrib>Xinh, Phan Thi</creatorcontrib><creatorcontrib>Tram, Duong Bich</creatorcontrib><creatorcontrib>Ha, Nguyen Thi Thanh</creatorcontrib><creatorcontrib>Nguyen, Tuan Minh</creatorcontrib><creatorcontrib>Anh, Phan Nguyen Lien</creatorcontrib><creatorcontrib>Van, Nguyen Dinh</creatorcontrib><creatorcontrib>Anh, Nguyen Hoang Mai</creatorcontrib><creatorcontrib>Dung, Phu Chi</creatorcontrib><creatorcontrib>Nghia, Huynh</creatorcontrib><creatorcontrib>Vu, Hoang Anh</creatorcontrib><title>Spectrum of WAS gene mutations in Vietnamese patients with Wiskott–Aldrich syndrome</title><title>Pediatrics international</title><addtitle>Pediatr Int</addtitle><description>Background
WAS gene mutational analysis is crucial to establish a definite diagnosis of Wiskott–Aldrich syndrome (WAS). Data on the genetic background of WAS in Vietnamese patients have not been reported.
Methods
We recruited 97 male, unrelated patients with WAS and analyzed WAS gene mutation using Sanger sequencing technology.
Results
We identified 36 distinct hemizygous pathogenic mutations, with 17 novel variants, from 38 patients in the entire cohort (39.2%). The mutational spectrum included 14 missense, 12 indel, five nonsense, four splicing, and one non‐stop mutations. Most mutations appear only once, with the exception of c.37C>T (p.R13X) and c.374G>A (p.G125E) each of which occurs twice in unrelated patients.
Conclusion
Our data enrich the mutational spectrum of the WAS gene and are crucial for understanding the genetic background of WAS and for supporting genetic counseling.</description><subject>DNA Mutational Analysis</subject><subject>Genetic analysis</subject><subject>Genetic counseling</subject><subject>hemizygous mutation</subject><subject>Humans</subject><subject>Male</subject><subject>Mutation</subject><subject>novel variant</subject><subject>Point mutation</subject><subject>Vietnam</subject><subject>Vietnamese</subject><subject>WAS gene</subject><subject>Wiskott-Aldrich syndrome</subject><subject>Wiskott-Aldrich Syndrome - diagnosis</subject><subject>Wiskott-Aldrich Syndrome - genetics</subject><subject>Wiskott-Aldrich Syndrome Protein - genetics</subject><issn>1328-8067</issn><issn>1442-200X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><recordid>eNp1kMlKBDEQhoMo7gdfQAJe9NBj0smk08dhXGFAwfUW0ulqjfZmkkbm5jv4hj6J0dGLYF2qKD5-qj6EdigZ0ViHPZQjOs4ysoTWKedpkhJyvxxnlspEEpGtoQ3vnwghMpN8Fa0xKTjNGVtHN1c9mOCGBncVvptc4QdoATdD0MF2rce2xbcWQqsb8ID7uIU2ePxqwyO-s_65C-Hj7X1Sl86aR-znbem6BrbQSqVrD9s_fRNdnxxfT8-S2cXp-XQySwyjjCSUiaIwPIWC5zRlWlMDY8NEzlkuJKk4L0HIohJlSnPO44OlLspiLLWpioqxTbS_iO1d9zKAD6qx3kBd6xa6wStGOCOZ4CKL6N4f9KkbXBuPU4xyycapIHmkDhaUcZ33DirVO9toN1eUqC_VKqpW36oju_uTOBRN3P6Sv24jcLgAXm0N8_-T1OXx0SLyE_cLiLs</recordid><startdate>202401</startdate><enddate>202401</enddate><creator>Chuong, Ho Quoc</creator><creator>Xinh, Phan Thi</creator><creator>Tram, Duong Bich</creator><creator>Ha, Nguyen Thi Thanh</creator><creator>Nguyen, Tuan Minh</creator><creator>Anh, Phan Nguyen Lien</creator><creator>Van, Nguyen Dinh</creator><creator>Anh, Nguyen Hoang Mai</creator><creator>Dung, Phu Chi</creator><creator>Nghia, Huynh</creator><creator>Vu, Hoang Anh</creator><general>Blackwell Publishing Ltd</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>7TK</scope><scope>7U9</scope><scope>H94</scope><scope>K9.</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0003-4232-6001</orcidid></search><sort><creationdate>202401</creationdate><title>Spectrum of WAS gene mutations in Vietnamese patients with Wiskott–Aldrich syndrome</title><author>Chuong, Ho Quoc ; Xinh, Phan Thi ; Tram, Duong Bich ; Ha, Nguyen Thi Thanh ; Nguyen, Tuan Minh ; Anh, Phan Nguyen Lien ; Van, Nguyen Dinh ; Anh, Nguyen Hoang Mai ; Dung, Phu Chi ; Nghia, Huynh ; Vu, Hoang Anh</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3130-136bbc42eb49123aa1ce5c369439680f44de68bf6d21944770dabdb58acfbf33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>DNA Mutational Analysis</topic><topic>Genetic analysis</topic><topic>Genetic counseling</topic><topic>hemizygous mutation</topic><topic>Humans</topic><topic>Male</topic><topic>Mutation</topic><topic>novel variant</topic><topic>Point mutation</topic><topic>Vietnam</topic><topic>Vietnamese</topic><topic>WAS gene</topic><topic>Wiskott-Aldrich syndrome</topic><topic>Wiskott-Aldrich Syndrome - diagnosis</topic><topic>Wiskott-Aldrich Syndrome - genetics</topic><topic>Wiskott-Aldrich Syndrome Protein - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Chuong, Ho Quoc</creatorcontrib><creatorcontrib>Xinh, Phan Thi</creatorcontrib><creatorcontrib>Tram, Duong Bich</creatorcontrib><creatorcontrib>Ha, Nguyen Thi Thanh</creatorcontrib><creatorcontrib>Nguyen, Tuan Minh</creatorcontrib><creatorcontrib>Anh, Phan Nguyen Lien</creatorcontrib><creatorcontrib>Van, Nguyen Dinh</creatorcontrib><creatorcontrib>Anh, Nguyen Hoang Mai</creatorcontrib><creatorcontrib>Dung, Phu Chi</creatorcontrib><creatorcontrib>Nghia, Huynh</creatorcontrib><creatorcontrib>Vu, Hoang Anh</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><jtitle>Pediatrics international</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Chuong, Ho Quoc</au><au>Xinh, Phan Thi</au><au>Tram, Duong Bich</au><au>Ha, Nguyen Thi Thanh</au><au>Nguyen, Tuan Minh</au><au>Anh, Phan Nguyen Lien</au><au>Van, Nguyen Dinh</au><au>Anh, Nguyen Hoang Mai</au><au>Dung, Phu Chi</au><au>Nghia, Huynh</au><au>Vu, Hoang Anh</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Spectrum of WAS gene mutations in Vietnamese patients with Wiskott–Aldrich syndrome</atitle><jtitle>Pediatrics international</jtitle><addtitle>Pediatr Int</addtitle><date>2024-01</date><risdate>2024</risdate><volume>66</volume><issue>1</issue><spage>e15770</spage><epage>n/a</epage><pages>e15770-n/a</pages><issn>1328-8067</issn><eissn>1442-200X</eissn><abstract>Background
WAS gene mutational analysis is crucial to establish a definite diagnosis of Wiskott–Aldrich syndrome (WAS). Data on the genetic background of WAS in Vietnamese patients have not been reported.
Methods
We recruited 97 male, unrelated patients with WAS and analyzed WAS gene mutation using Sanger sequencing technology.
Results
We identified 36 distinct hemizygous pathogenic mutations, with 17 novel variants, from 38 patients in the entire cohort (39.2%). The mutational spectrum included 14 missense, 12 indel, five nonsense, four splicing, and one non‐stop mutations. Most mutations appear only once, with the exception of c.37C>T (p.R13X) and c.374G>A (p.G125E) each of which occurs twice in unrelated patients.
Conclusion
Our data enrich the mutational spectrum of the WAS gene and are crucial for understanding the genetic background of WAS and for supporting genetic counseling.</abstract><cop>Australia</cop><pub>Blackwell Publishing Ltd</pub><pmid>38641933</pmid><doi>10.1111/ped.15770</doi><tpages>6</tpages><orcidid>https://orcid.org/0000-0003-4232-6001</orcidid></addata></record> |
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| source | Wiley-Blackwell Read & Publish Collection |
| subjects | DNA Mutational Analysis Genetic analysis Genetic counseling hemizygous mutation Humans Male Mutation novel variant Point mutation Vietnam Vietnamese WAS gene Wiskott-Aldrich syndrome Wiskott-Aldrich Syndrome - diagnosis Wiskott-Aldrich Syndrome - genetics Wiskott-Aldrich Syndrome Protein - genetics |
| title | Spectrum of WAS gene mutations in Vietnamese patients with Wiskott–Aldrich syndrome |
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