Two novel cases expanding the phenotype of SETD2‐related overgrowth syndrome
The SETD2‐related overgrowth syndrome is also called “Luscan‐Lumish syndrome” (OMIM 616831) with the clinical characteristics of intellectual disability, speech delay, macrocephaly, facial dysmorphism, and autism spectrum disorders. We report on two novel patients a 4.5‐year‐old boy and a 23‐year‐ol...
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| Veröffentlicht in: | American journal of medical genetics. Part A 2018-05, Vol.176 (5), p.1212-1215 |
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| container_title | American journal of medical genetics. Part A |
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| creator | van Rij, Maartje C. Hollink, Iris H. I. M. Terhal, Paulien Anna Kant, Sarina G. Ruivenkamp, Claudia van Haeringen, Arie Kievit, J. Anneke van Belzen, Martine J. |
| description | The SETD2‐related overgrowth syndrome is also called “Luscan‐Lumish syndrome” (OMIM 616831) with the clinical characteristics of intellectual disability, speech delay, macrocephaly, facial dysmorphism, and autism spectrum disorders. We report on two novel patients a 4.5‐year‐old boy and a 23‐year‐old female adolescent with a speech and language developmental delay, autism spectrum disorder and macrocephaly, who were both diagnosed with SETD2‐related overgrowth syndrome due to de novo frameshift mutations in the SETD2 gene. Features not previously described which were present in either one of our patients were nasal polyps, a large tongue with creases, a high pain threshold, constipation, and undescended testicles. These features may be related to the syndrome and may need special attention in future patients. Additionally, prevention of obesity should be an important point of attention for patients diagnosed with a SETD2‐related overgrowth syndrome. |
| doi_str_mv | 10.1002/ajmg.a.38666 |
| format | Article |
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I. M. ; Terhal, Paulien Anna ; Kant, Sarina G. ; Ruivenkamp, Claudia ; van Haeringen, Arie ; Kievit, J. Anneke ; van Belzen, Martine J.</creator><creatorcontrib>van Rij, Maartje C. ; Hollink, Iris H. I. M. ; Terhal, Paulien Anna ; Kant, Sarina G. ; Ruivenkamp, Claudia ; van Haeringen, Arie ; Kievit, J. Anneke ; van Belzen, Martine J.</creatorcontrib><description>The SETD2‐related overgrowth syndrome is also called “Luscan‐Lumish syndrome” (OMIM 616831) with the clinical characteristics of intellectual disability, speech delay, macrocephaly, facial dysmorphism, and autism spectrum disorders. We report on two novel patients a 4.5‐year‐old boy and a 23‐year‐old female adolescent with a speech and language developmental delay, autism spectrum disorder and macrocephaly, who were both diagnosed with SETD2‐related overgrowth syndrome due to de novo frameshift mutations in the SETD2 gene. Features not previously described which were present in either one of our patients were nasal polyps, a large tongue with creases, a high pain threshold, constipation, and undescended testicles. These features may be related to the syndrome and may need special attention in future patients. Additionally, prevention of obesity should be an important point of attention for patients diagnosed with a SETD2‐related overgrowth syndrome.</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.38666</identifier><identifier>PMID: 29681085</identifier><language>eng</language><publisher>United States: Wiley Subscription Services, Inc</publisher><subject>Autism ; Autism Spectrum Disorder - diagnosis ; Autism Spectrum Disorder - genetics ; Child, Preschool ; Constipation ; DNA Copy Number Variations ; Facies ; Female ; Frameshift Mutation ; Genetic Association Studies ; Heterozygote ; Histone-Lysine N-Methyltransferase - genetics ; Humans ; Intellectual Disability - diagnosis ; Intellectual Disability - genetics ; Luscan‐Lumish syndrome ; Macrocephaly ; Male ; Megalencephaly - diagnosis ; Megalencephaly - genetics ; Mutation ; obesity ; OMIM 616831 ; overgrowth ; Pain ; Phenotype ; Phenotypes ; Polymorphism, Single Nucleotide ; Polyps ; SETD2 ; Sotos‐like syndrome ; Speech ; Syndrome ; Tongue ; Young Adult</subject><ispartof>American journal of medical genetics. 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I. M.</creatorcontrib><creatorcontrib>Terhal, Paulien Anna</creatorcontrib><creatorcontrib>Kant, Sarina G.</creatorcontrib><creatorcontrib>Ruivenkamp, Claudia</creatorcontrib><creatorcontrib>van Haeringen, Arie</creatorcontrib><creatorcontrib>Kievit, J. Anneke</creatorcontrib><creatorcontrib>van Belzen, Martine J.</creatorcontrib><title>Two novel cases expanding the phenotype of SETD2‐related overgrowth syndrome</title><title>American journal of medical genetics. Part A</title><addtitle>Am J Med Genet A</addtitle><description>The SETD2‐related overgrowth syndrome is also called “Luscan‐Lumish syndrome” (OMIM 616831) with the clinical characteristics of intellectual disability, speech delay, macrocephaly, facial dysmorphism, and autism spectrum disorders. We report on two novel patients a 4.5‐year‐old boy and a 23‐year‐old female adolescent with a speech and language developmental delay, autism spectrum disorder and macrocephaly, who were both diagnosed with SETD2‐related overgrowth syndrome due to de novo frameshift mutations in the SETD2 gene. Features not previously described which were present in either one of our patients were nasal polyps, a large tongue with creases, a high pain threshold, constipation, and undescended testicles. These features may be related to the syndrome and may need special attention in future patients. Additionally, prevention of obesity should be an important point of attention for patients diagnosed with a SETD2‐related overgrowth syndrome.</description><subject>Autism</subject><subject>Autism Spectrum Disorder - diagnosis</subject><subject>Autism Spectrum Disorder - genetics</subject><subject>Child, Preschool</subject><subject>Constipation</subject><subject>DNA Copy Number Variations</subject><subject>Facies</subject><subject>Female</subject><subject>Frameshift Mutation</subject><subject>Genetic Association Studies</subject><subject>Heterozygote</subject><subject>Histone-Lysine N-Methyltransferase - genetics</subject><subject>Humans</subject><subject>Intellectual Disability - diagnosis</subject><subject>Intellectual Disability - genetics</subject><subject>Luscan‐Lumish syndrome</subject><subject>Macrocephaly</subject><subject>Male</subject><subject>Megalencephaly - diagnosis</subject><subject>Megalencephaly - genetics</subject><subject>Mutation</subject><subject>obesity</subject><subject>OMIM 616831</subject><subject>overgrowth</subject><subject>Pain</subject><subject>Phenotype</subject><subject>Phenotypes</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Polyps</subject><subject>SETD2</subject><subject>Sotos‐like syndrome</subject><subject>Speech</subject><subject>Syndrome</subject><subject>Tongue</subject><subject>Young Adult</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2018</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kLlOAzEQhi0E4gh01MgSDQUJvr1bRuEWR0GoLeOdzaHd9WJvCOl4BJ6RJ2FDgIICaaSZ4ptfMx9C-5T0KCHsxE7LUc_2eKKUWkPbVErWFQnn678zk1toJ8YpIZxIrTbRFktVQkkit9HdcO5x5V-gwM5GiBhea1tlk2qEmzHgegyVbxY1YJ_jh7PhKft4ew9Q2AYy3G6FUfDzZozjosqCL2EXbeS2iLD33Tvo8fxsOLjs3txfXA36N13HlVBdm-hc0gS0panSUj6llAvHlBTaEumEc0QpCcIplmuaUiayhBNHM62pzHjOO-holVsH_zyD2JhyEh0Uha3Az6JhpH1RpEKQFj38g079LFTtdUsq4Zovq4OOV5QLPsYAuanDpLRhYSgxS89m6dlY8-W5xQ--Q2dPJWS_8I_YFhArYD4pYPFvmOlf3170V7mfpOiInw</recordid><startdate>201805</startdate><enddate>201805</enddate><creator>van Rij, Maartje C.</creator><creator>Hollink, Iris H. I. M.</creator><creator>Terhal, Paulien Anna</creator><creator>Kant, Sarina G.</creator><creator>Ruivenkamp, Claudia</creator><creator>van Haeringen, Arie</creator><creator>Kievit, J. Anneke</creator><creator>van Belzen, Martine J.</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>7QP</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0003-0872-0566</orcidid><orcidid>https://orcid.org/0000-0002-4417-4307</orcidid></search><sort><creationdate>201805</creationdate><title>Two novel cases expanding the phenotype of SETD2‐related overgrowth syndrome</title><author>van Rij, Maartje C. ; Hollink, Iris H. I. M. ; Terhal, Paulien Anna ; Kant, Sarina G. ; Ruivenkamp, Claudia ; van Haeringen, Arie ; Kievit, J. 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I. M.</creatorcontrib><creatorcontrib>Terhal, Paulien Anna</creatorcontrib><creatorcontrib>Kant, Sarina G.</creatorcontrib><creatorcontrib>Ruivenkamp, Claudia</creatorcontrib><creatorcontrib>van Haeringen, Arie</creatorcontrib><creatorcontrib>Kievit, J. Anneke</creatorcontrib><creatorcontrib>van Belzen, Martine J.</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><collection>MEDLINE - Academic</collection><jtitle>American journal of medical genetics. Part A</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>van Rij, Maartje C.</au><au>Hollink, Iris H. I. M.</au><au>Terhal, Paulien Anna</au><au>Kant, Sarina G.</au><au>Ruivenkamp, Claudia</au><au>van Haeringen, Arie</au><au>Kievit, J. Anneke</au><au>van Belzen, Martine J.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Two novel cases expanding the phenotype of SETD2‐related overgrowth syndrome</atitle><jtitle>American journal of medical genetics. Part A</jtitle><addtitle>Am J Med Genet A</addtitle><date>2018-05</date><risdate>2018</risdate><volume>176</volume><issue>5</issue><spage>1212</spage><epage>1215</epage><pages>1212-1215</pages><issn>1552-4825</issn><eissn>1552-4833</eissn><abstract>The SETD2‐related overgrowth syndrome is also called “Luscan‐Lumish syndrome” (OMIM 616831) with the clinical characteristics of intellectual disability, speech delay, macrocephaly, facial dysmorphism, and autism spectrum disorders. We report on two novel patients a 4.5‐year‐old boy and a 23‐year‐old female adolescent with a speech and language developmental delay, autism spectrum disorder and macrocephaly, who were both diagnosed with SETD2‐related overgrowth syndrome due to de novo frameshift mutations in the SETD2 gene. Features not previously described which were present in either one of our patients were nasal polyps, a large tongue with creases, a high pain threshold, constipation, and undescended testicles. These features may be related to the syndrome and may need special attention in future patients. 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| subjects | Autism Autism Spectrum Disorder - diagnosis Autism Spectrum Disorder - genetics Child, Preschool Constipation DNA Copy Number Variations Facies Female Frameshift Mutation Genetic Association Studies Heterozygote Histone-Lysine N-Methyltransferase - genetics Humans Intellectual Disability - diagnosis Intellectual Disability - genetics Luscan‐Lumish syndrome Macrocephaly Male Megalencephaly - diagnosis Megalencephaly - genetics Mutation obesity OMIM 616831 overgrowth Pain Phenotype Phenotypes Polymorphism, Single Nucleotide Polyps SETD2 Sotos‐like syndrome Speech Syndrome Tongue Young Adult |
| title | Two novel cases expanding the phenotype of SETD2‐related overgrowth syndrome |
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