A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A
Kabuki syndrome is a rare malformation syndrome characterized by a typical facial appearance, skeletal anomalies, cardiac malformation, and mild to moderate intellectual disability. In 55–80% of patients with Kabuki syndrome, a mutation in MLL2 is identified. Recently, eight patients with Kabuki syn...
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| Veröffentlicht in: | American journal of medical genetics. Part A 2014-05, Vol.164A (5), p.1289-1292 |
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| container_title | American journal of medical genetics. Part A |
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| creator | Lederer, Damien Shears, Debbie Benoit, Valérie Verellen-Dumoulin, Christine Maystadt, Isabelle |
| description | Kabuki syndrome is a rare malformation syndrome characterized by a typical facial appearance, skeletal anomalies, cardiac malformation, and mild to moderate intellectual disability. In 55–80% of patients with Kabuki syndrome, a mutation in MLL2 is identified. Recently, eight patients with Kabuki syndrome and a mutation in KDM6A were described. In this report, we describe two brothers with a mutation in KDM6A inherited from their mother and maternal grandmother. The two boys have Kabuki‐like phenotypes whereas the mother and grandmother present with attenuated phenotypes. This family represents the first instance of hereditary X‐linked Kabuki syndrome. We present a short literature review of the patients described with a mutation in KDM6A. © 2014 Wiley Periodicals, Inc. |
| doi_str_mv | 10.1002/ajmg.a.36442 |
| format | Article |
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In 55–80% of patients with Kabuki syndrome, a mutation in MLL2 is identified. Recently, eight patients with Kabuki syndrome and a mutation in KDM6A were described. In this report, we describe two brothers with a mutation in KDM6A inherited from their mother and maternal grandmother. The two boys have Kabuki‐like phenotypes whereas the mother and grandmother present with attenuated phenotypes. This family represents the first instance of hereditary X‐linked Kabuki syndrome. We present a short literature review of the patients described with a mutation in KDM6A. © 2014 Wiley Periodicals, Inc.</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.36442</identifier><identifier>PMID: 24664873</identifier><language>eng</language><publisher>United States: Blackwell Publishing Ltd</publisher><subject>Abnormalities, Multiple - diagnosis ; Abnormalities, Multiple - genetics ; Adult ; Face - abnormalities ; Facies ; Female ; Frameshift Mutation ; Genes, X-Linked ; Hematologic Diseases - diagnosis ; Hematologic Diseases - genetics ; Histone Demethylases - genetics ; Humans ; Infant, Newborn ; Kabuki syndrome ; KDM6A ; Male ; Middle Aged ; Nuclear Proteins - genetics ; Pedigree ; Phenotype ; Pregnancy ; Prenatal Diagnosis ; seizure ; Vestibular Diseases - diagnosis ; Vestibular Diseases - genetics ; X-linked</subject><ispartof>American journal of medical genetics. 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Part A</title><addtitle>Am. J. Med. Genet</addtitle><description>Kabuki syndrome is a rare malformation syndrome characterized by a typical facial appearance, skeletal anomalies, cardiac malformation, and mild to moderate intellectual disability. In 55–80% of patients with Kabuki syndrome, a mutation in MLL2 is identified. Recently, eight patients with Kabuki syndrome and a mutation in KDM6A were described. In this report, we describe two brothers with a mutation in KDM6A inherited from their mother and maternal grandmother. The two boys have Kabuki‐like phenotypes whereas the mother and grandmother present with attenuated phenotypes. This family represents the first instance of hereditary X‐linked Kabuki syndrome. We present a short literature review of the patients described with a mutation in KDM6A. © 2014 Wiley Periodicals, Inc.</description><subject>Abnormalities, Multiple - diagnosis</subject><subject>Abnormalities, Multiple - genetics</subject><subject>Adult</subject><subject>Face - abnormalities</subject><subject>Facies</subject><subject>Female</subject><subject>Frameshift Mutation</subject><subject>Genes, X-Linked</subject><subject>Hematologic Diseases - diagnosis</subject><subject>Hematologic Diseases - genetics</subject><subject>Histone Demethylases - genetics</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Kabuki syndrome</subject><subject>KDM6A</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Nuclear Proteins - genetics</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Pregnancy</subject><subject>Prenatal Diagnosis</subject><subject>seizure</subject><subject>Vestibular Diseases - diagnosis</subject><subject>Vestibular Diseases - genetics</subject><subject>X-linked</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkTtv1EAURi0EIg_oqNFINBR4mfdMSmvDLiGvJgFEMxrb19nZtcfLjK3E_x5vnGxBgajuLc49up--JHlH8IxgTD_bdXM3szMmOacvkkMiBE25ZuzlfqfiIDmKcY0xw0LJ18kB5VJyrdhhUmaoWwUAdAcegu1c69HPtHZ-AyWqbOPqAd27boXObd5vHIqDL0PbANquwLfdsAVkfYksqoJtIK5c1aGm7yaR8-j89FJmb5JXla0jvH2ax8nt4svN_Gt6cb08m2cXacHZ-Klipa0KPj5XEK2t4oKKQkjQhAHlWBPK-BjAatAgKrBC5pUsc221rAqRK3acfJy829D-7iF2pnGxgLq2Hto-GiIoZpLgk5P_QIlUDBPFR_TDX-i67YMfg-woobCkQo_Up4kqQhtjgMpsg2tsGAzBZleU2RVlrHksasTfP0n7vIFyDz83MwJ8Au5dDcM_ZSb7drnMnr3pdOZiBw_7Mxs2ZsyjhPlxtTR4Mb8hi6tf5jv7A_YsrJo</recordid><startdate>201405</startdate><enddate>201405</enddate><creator>Lederer, Damien</creator><creator>Shears, Debbie</creator><creator>Benoit, Valérie</creator><creator>Verellen-Dumoulin, Christine</creator><creator>Maystadt, Isabelle</creator><general>Blackwell Publishing Ltd</general><general>Wiley Subscription Services, Inc</general><scope>BSCLL</scope><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></search><sort><creationdate>201405</creationdate><title>A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A</title><author>Lederer, Damien ; Shears, Debbie ; Benoit, Valérie ; Verellen-Dumoulin, Christine ; Maystadt, Isabelle</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4352-73dafc4246c188a74525c56e813e24081234057a8e8e5fea56bf6db8a86fc5b73</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Abnormalities, Multiple - diagnosis</topic><topic>Abnormalities, Multiple - genetics</topic><topic>Adult</topic><topic>Face - abnormalities</topic><topic>Facies</topic><topic>Female</topic><topic>Frameshift Mutation</topic><topic>Genes, X-Linked</topic><topic>Hematologic Diseases - diagnosis</topic><topic>Hematologic Diseases - genetics</topic><topic>Histone Demethylases - genetics</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Kabuki syndrome</topic><topic>KDM6A</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Nuclear Proteins - genetics</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Pregnancy</topic><topic>Prenatal Diagnosis</topic><topic>seizure</topic><topic>Vestibular Diseases - diagnosis</topic><topic>Vestibular Diseases - genetics</topic><topic>X-linked</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Lederer, Damien</creatorcontrib><creatorcontrib>Shears, Debbie</creatorcontrib><creatorcontrib>Benoit, Valérie</creatorcontrib><creatorcontrib>Verellen-Dumoulin, Christine</creatorcontrib><creatorcontrib>Maystadt, Isabelle</creatorcontrib><collection>Istex</collection><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. 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In 55–80% of patients with Kabuki syndrome, a mutation in MLL2 is identified. Recently, eight patients with Kabuki syndrome and a mutation in KDM6A were described. In this report, we describe two brothers with a mutation in KDM6A inherited from their mother and maternal grandmother. The two boys have Kabuki‐like phenotypes whereas the mother and grandmother present with attenuated phenotypes. This family represents the first instance of hereditary X‐linked Kabuki syndrome. We present a short literature review of the patients described with a mutation in KDM6A. © 2014 Wiley Periodicals, Inc.</abstract><cop>United States</cop><pub>Blackwell Publishing Ltd</pub><pmid>24664873</pmid><doi>10.1002/ajmg.a.36442</doi><tpages>4</tpages></addata></record> |
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| subjects | Abnormalities, Multiple - diagnosis Abnormalities, Multiple - genetics Adult Face - abnormalities Facies Female Frameshift Mutation Genes, X-Linked Hematologic Diseases - diagnosis Hematologic Diseases - genetics Histone Demethylases - genetics Humans Infant, Newborn Kabuki syndrome KDM6A Male Middle Aged Nuclear Proteins - genetics Pedigree Phenotype Pregnancy Prenatal Diagnosis seizure Vestibular Diseases - diagnosis Vestibular Diseases - genetics X-linked |
| title | A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A |
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