Expanding the phenotypic and genotypic spectrum of Wiedemann–Steiner syndrome: First patient from India
Wiedemann–Steiner syndrome (WWS) is a rare disorder characterized by hypotonia, postnatal growth restriction, striking facial dysmorphism, and hirsutism. It is caused by heterozygous pathogenic variants in KMT2A. This gene has an established role in histone methylation, which explains the overlap of...
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| Veröffentlicht in: | American journal of medical genetics. Part A 2020-05, Vol.182 (5), p.953-956 |
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| creator | Arora, Veronica Puri, Ratna D. Bijarnia‐Mahay, Sunita Verma, Ishwar C. |
| description | Wiedemann–Steiner syndrome (WWS) is a rare disorder characterized by hypotonia, postnatal growth restriction, striking facial dysmorphism, and hirsutism. It is caused by heterozygous pathogenic variants in KMT2A. This gene has an established role in histone methylation, which explains the overlap of WWS with syndromes caused by genes involved in chromatin remodeling. We describe an infant with a novel single base pair deletion in KMT2A with features consistent with WWS, as well as additional features of stenosis of aqueduct of Sylvius and broad toes. The usefulness of Face2Gene as a tool for identification of dysmorphology syndromes is discussed, as in this patient, it suggested WWS as the top candidate disorder. To the best of our knowledge, this is the first patient of WWS reported from India, with a novel genotype and expanded phenotype. |
| doi_str_mv | 10.1002/ajmg.a.61534 |
| format | Article |
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It is caused by heterozygous pathogenic variants in KMT2A. This gene has an established role in histone methylation, which explains the overlap of WWS with syndromes caused by genes involved in chromatin remodeling. We describe an infant with a novel single base pair deletion in KMT2A with features consistent with WWS, as well as additional features of stenosis of aqueduct of Sylvius and broad toes. The usefulness of Face2Gene as a tool for identification of dysmorphology syndromes is discussed, as in this patient, it suggested WWS as the top candidate disorder. To the best of our knowledge, this is the first patient of WWS reported from India, with a novel genotype and expanded phenotype.</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.61534</identifier><identifier>PMID: 32128942</identifier><language>eng</language><publisher>Hoboken, USA: John Wiley & Sons, Inc</publisher><subject>Abnormalities, Multiple - diagnosis ; Abnormalities, Multiple - epidemiology ; Abnormalities, Multiple - genetics ; Abnormalities, Multiple - physiopathology ; aqueduct stenosis ; broad toes ; Chromatin remodeling ; Contracture - diagnosis ; Contracture - epidemiology ; Contracture - genetics ; Contracture - physiopathology ; DNA methylation ; Face2Gene ; Facies ; Female ; Gene deletion ; Genotype ; Genotypes ; Growth Disorders - diagnosis ; Growth Disorders - epidemiology ; Growth Disorders - genetics ; Growth Disorders - physiopathology ; Heterozygote ; Hirsutism ; Histone-Lysine N-Methyltransferase - genetics ; Humans ; India - epidemiology ; Infant ; Intellectual Disability - diagnosis ; Intellectual Disability - epidemiology ; Intellectual Disability - genetics ; Intellectual Disability - physiopathology ; KMT2A ; Male ; Microcephaly - diagnosis ; Microcephaly - epidemiology ; Microcephaly - genetics ; Microcephaly - physiopathology ; Musculoskeletal Abnormalities - diagnosis ; Musculoskeletal Abnormalities - epidemiology ; Musculoskeletal Abnormalities - genetics ; Musculoskeletal Abnormalities - physiopathology ; Mutation - genetics ; Myeloid-Lymphoid Leukemia Protein - genetics ; Phenotype ; Phenotypes ; Stenosis ; Wiedemann–Steiner syndrome</subject><ispartof>American journal of medical genetics. 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To the best of our knowledge, this is the first patient of WWS reported from India, with a novel genotype and expanded phenotype.</description><subject>Abnormalities, Multiple - diagnosis</subject><subject>Abnormalities, Multiple - epidemiology</subject><subject>Abnormalities, Multiple - genetics</subject><subject>Abnormalities, Multiple - physiopathology</subject><subject>aqueduct stenosis</subject><subject>broad toes</subject><subject>Chromatin remodeling</subject><subject>Contracture - diagnosis</subject><subject>Contracture - epidemiology</subject><subject>Contracture - genetics</subject><subject>Contracture - physiopathology</subject><subject>DNA methylation</subject><subject>Face2Gene</subject><subject>Facies</subject><subject>Female</subject><subject>Gene deletion</subject><subject>Genotype</subject><subject>Genotypes</subject><subject>Growth Disorders - diagnosis</subject><subject>Growth Disorders - epidemiology</subject><subject>Growth Disorders - genetics</subject><subject>Growth Disorders - physiopathology</subject><subject>Heterozygote</subject><subject>Hirsutism</subject><subject>Histone-Lysine N-Methyltransferase - genetics</subject><subject>Humans</subject><subject>India - epidemiology</subject><subject>Infant</subject><subject>Intellectual Disability - diagnosis</subject><subject>Intellectual Disability - epidemiology</subject><subject>Intellectual Disability - genetics</subject><subject>Intellectual Disability - physiopathology</subject><subject>KMT2A</subject><subject>Male</subject><subject>Microcephaly - diagnosis</subject><subject>Microcephaly - epidemiology</subject><subject>Microcephaly - genetics</subject><subject>Microcephaly - physiopathology</subject><subject>Musculoskeletal Abnormalities - diagnosis</subject><subject>Musculoskeletal Abnormalities - epidemiology</subject><subject>Musculoskeletal Abnormalities - genetics</subject><subject>Musculoskeletal Abnormalities - physiopathology</subject><subject>Mutation - genetics</subject><subject>Myeloid-Lymphoid Leukemia Protein - genetics</subject><subject>Phenotype</subject><subject>Phenotypes</subject><subject>Stenosis</subject><subject>Wiedemann–Steiner syndrome</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kDFPwzAQhS0EolDYmJElVlrs2E5ctgrRUgRiAMRoOc6ldUWcYKeCbvwH_iG_BJeWjkx39_TpPd1D6ISSPiUkudDzatrX_ZQKxnfQARUi6XHJ2O52T0QHHYYwJ4QRkaX7qMMSmsgBTw6Qvf5otCusm-J2BriZgavbZWMNjiqebq_QgGn9osJ1iV8sFFBp574_vx5bsA48DktX-LqCSzyyPrS40a0F1-IyingSA_QR2iv1a4Djzeyi59H109VN7-5hPLka3vUMY5T3OJicSAaZKCiTuSGUgBacsAx4xktudBalPOOmlGmexIekKGUhuZZMpwPDuuhs7dv4-m0BoVXzeuFdjFQJG1CSEiYGkTpfU8bXIXgoVeNtpf1SUaJWvapVr0qr314jfroxXeQVFFv4r8gI8DXwbl9h-a-ZGt7ej4dr3x9464XQ</recordid><startdate>202005</startdate><enddate>202005</enddate><creator>Arora, Veronica</creator><creator>Puri, Ratna D.</creator><creator>Bijarnia‐Mahay, Sunita</creator><creator>Verma, Ishwar C.</creator><general>John Wiley & Sons, Inc</general><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>7QP</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><orcidid>https://orcid.org/0000-0002-2874-2917</orcidid><orcidid>https://orcid.org/0000-0003-1944-5539</orcidid><orcidid>https://orcid.org/0000-0003-2694-6147</orcidid></search><sort><creationdate>202005</creationdate><title>Expanding the phenotypic and genotypic spectrum of Wiedemann–Steiner syndrome: First patient from India</title><author>Arora, Veronica ; Puri, Ratna D. ; Bijarnia‐Mahay, Sunita ; Verma, Ishwar C.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3314-4ecb083e75d138bc010ea54037e474f4ca7010b74cf86b205785f8d84a83a69c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Abnormalities, Multiple - diagnosis</topic><topic>Abnormalities, Multiple - epidemiology</topic><topic>Abnormalities, Multiple - genetics</topic><topic>Abnormalities, Multiple - physiopathology</topic><topic>aqueduct stenosis</topic><topic>broad toes</topic><topic>Chromatin remodeling</topic><topic>Contracture - diagnosis</topic><topic>Contracture - epidemiology</topic><topic>Contracture - genetics</topic><topic>Contracture - physiopathology</topic><topic>DNA methylation</topic><topic>Face2Gene</topic><topic>Facies</topic><topic>Female</topic><topic>Gene deletion</topic><topic>Genotype</topic><topic>Genotypes</topic><topic>Growth Disorders - diagnosis</topic><topic>Growth Disorders - epidemiology</topic><topic>Growth Disorders - genetics</topic><topic>Growth Disorders - physiopathology</topic><topic>Heterozygote</topic><topic>Hirsutism</topic><topic>Histone-Lysine N-Methyltransferase - genetics</topic><topic>Humans</topic><topic>India - epidemiology</topic><topic>Infant</topic><topic>Intellectual Disability - diagnosis</topic><topic>Intellectual Disability - epidemiology</topic><topic>Intellectual Disability - genetics</topic><topic>Intellectual Disability - physiopathology</topic><topic>KMT2A</topic><topic>Male</topic><topic>Microcephaly - diagnosis</topic><topic>Microcephaly - epidemiology</topic><topic>Microcephaly - genetics</topic><topic>Microcephaly - physiopathology</topic><topic>Musculoskeletal Abnormalities - diagnosis</topic><topic>Musculoskeletal Abnormalities - epidemiology</topic><topic>Musculoskeletal Abnormalities - genetics</topic><topic>Musculoskeletal Abnormalities - physiopathology</topic><topic>Mutation - genetics</topic><topic>Myeloid-Lymphoid Leukemia Protein - genetics</topic><topic>Phenotype</topic><topic>Phenotypes</topic><topic>Stenosis</topic><topic>Wiedemann–Steiner syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Arora, Veronica</creatorcontrib><creatorcontrib>Puri, Ratna D.</creatorcontrib><creatorcontrib>Bijarnia‐Mahay, Sunita</creatorcontrib><creatorcontrib>Verma, Ishwar C.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>American journal of medical genetics. Part A</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Arora, Veronica</au><au>Puri, Ratna D.</au><au>Bijarnia‐Mahay, Sunita</au><au>Verma, Ishwar C.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Expanding the phenotypic and genotypic spectrum of Wiedemann–Steiner syndrome: First patient from India</atitle><jtitle>American journal of medical genetics. Part A</jtitle><addtitle>Am J Med Genet A</addtitle><date>2020-05</date><risdate>2020</risdate><volume>182</volume><issue>5</issue><spage>953</spage><epage>956</epage><pages>953-956</pages><issn>1552-4825</issn><eissn>1552-4833</eissn><abstract>Wiedemann–Steiner syndrome (WWS) is a rare disorder characterized by hypotonia, postnatal growth restriction, striking facial dysmorphism, and hirsutism. It is caused by heterozygous pathogenic variants in KMT2A. This gene has an established role in histone methylation, which explains the overlap of WWS with syndromes caused by genes involved in chromatin remodeling. We describe an infant with a novel single base pair deletion in KMT2A with features consistent with WWS, as well as additional features of stenosis of aqueduct of Sylvius and broad toes. The usefulness of Face2Gene as a tool for identification of dysmorphology syndromes is discussed, as in this patient, it suggested WWS as the top candidate disorder. To the best of our knowledge, this is the first patient of WWS reported from India, with a novel genotype and expanded phenotype.</abstract><cop>Hoboken, USA</cop><pub>John Wiley & Sons, Inc</pub><pmid>32128942</pmid><doi>10.1002/ajmg.a.61534</doi><tpages>4</tpages><orcidid>https://orcid.org/0000-0002-2874-2917</orcidid><orcidid>https://orcid.org/0000-0003-1944-5539</orcidid><orcidid>https://orcid.org/0000-0003-2694-6147</orcidid></addata></record> |
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| subjects | Abnormalities, Multiple - diagnosis Abnormalities, Multiple - epidemiology Abnormalities, Multiple - genetics Abnormalities, Multiple - physiopathology aqueduct stenosis broad toes Chromatin remodeling Contracture - diagnosis Contracture - epidemiology Contracture - genetics Contracture - physiopathology DNA methylation Face2Gene Facies Female Gene deletion Genotype Genotypes Growth Disorders - diagnosis Growth Disorders - epidemiology Growth Disorders - genetics Growth Disorders - physiopathology Heterozygote Hirsutism Histone-Lysine N-Methyltransferase - genetics Humans India - epidemiology Infant Intellectual Disability - diagnosis Intellectual Disability - epidemiology Intellectual Disability - genetics Intellectual Disability - physiopathology KMT2A Male Microcephaly - diagnosis Microcephaly - epidemiology Microcephaly - genetics Microcephaly - physiopathology Musculoskeletal Abnormalities - diagnosis Musculoskeletal Abnormalities - epidemiology Musculoskeletal Abnormalities - genetics Musculoskeletal Abnormalities - physiopathology Mutation - genetics Myeloid-Lymphoid Leukemia Protein - genetics Phenotype Phenotypes Stenosis Wiedemann–Steiner syndrome |
| title | Expanding the phenotypic and genotypic spectrum of Wiedemann–Steiner syndrome: First patient from India |
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