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Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay

The ETS2 repressor factor (ERF) is a transcription factor in the RAS-MEK-ERK signal transduction cascade that regulates cell proliferation and differentiation, and pathogenic sequence variants in the gene cause variable craniosynostosis inherited in an autosomal dominant pattern. The reported varian...

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Published in:Cold Spring Harbor molecular case studies 2021-06, Vol.7 (3), p.a005991
Main Authors: Singh, Ram, Cohen, Ana S A, Poulton, Cathryn, Hjortshøj, Tina Duelund, Akahira-Azuma, Moe, Mendiratta, Geetu, Khan, Wahab A, Azmanov, Dimitar N, Woodward, Karen J, Kirchhoff, Maria, Shi, Lisong, Edelmann, Lisa, Baynam, Gareth, Scott, Stuart A, Jabs, Ethylin Wang
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cites cdi_FETCH-LOGICAL-c409t-92420e754023a41c8d61594178e3b84158594c65c815940155983fd0e37532543
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creator Singh, Ram
Cohen, Ana S A
Poulton, Cathryn
Hjortshøj, Tina Duelund
Akahira-Azuma, Moe
Mendiratta, Geetu
Khan, Wahab A
Azmanov, Dimitar N
Woodward, Karen J
Kirchhoff, Maria
Shi, Lisong
Edelmann, Lisa
Baynam, Gareth
Scott, Stuart A
Jabs, Ethylin Wang
description The ETS2 repressor factor (ERF) is a transcription factor in the RAS-MEK-ERK signal transduction cascade that regulates cell proliferation and differentiation, and pathogenic sequence variants in the gene cause variable craniosynostosis inherited in an autosomal dominant pattern. The reported variants are largely loss-of-function, implying haploinsufficiency as a primary disease mechanism; however, gene deletions have not been reported previously. Here we describe three probands with macrocephaly, craniofacial dysmorphology, and global developmental delay. Clinical genetic testing for fragile X and other relevant sequencing panels were negative; however, chromosomal microarray identified heterozygous deletions (63.7-583.2 kb) on Chromosome 19q13.2 in each proband that together included five genes associated with Mendelian diseases ( , , , , and ). Parental testing indicated that the aberrations were apparently de novo in two of the probands and were inherited in the one proband with the smallest deletion. Deletion of is consistent with the reported loss-of-function variants, prompting clinical copy-number-variant classifications of likely pathogenic. Moreover, the recent characterization of heterozygous loss-of-function sequence variants as a cause of intellectual disability and neurodevelopmental disorders inherited in an autosomal dominant pattern is also consistent with the developmental delays and intellectual disabilities identified among the two probands with deletions. Taken together, this case series adds to the previously reported patients with and/or sequence variants and supports haploinsufficiency of both genes as a mechanism for a variable syndromic cranial phenotype with developmental delays and intellectual disability inherited in an autosomal dominant pattern.
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The reported variants are largely loss-of-function, implying haploinsufficiency as a primary disease mechanism; however, gene deletions have not been reported previously. Here we describe three probands with macrocephaly, craniofacial dysmorphology, and global developmental delay. Clinical genetic testing for fragile X and other relevant sequencing panels were negative; however, chromosomal microarray identified heterozygous deletions (63.7-583.2 kb) on Chromosome 19q13.2 in each proband that together included five genes associated with Mendelian diseases ( , , , , and ). Parental testing indicated that the aberrations were apparently de novo in two of the probands and were inherited in the one proband with the smallest deletion. Deletion of is consistent with the reported loss-of-function variants, prompting clinical copy-number-variant classifications of likely pathogenic. Moreover, the recent characterization of heterozygous loss-of-function sequence variants as a cause of intellectual disability and neurodevelopmental disorders inherited in an autosomal dominant pattern is also consistent with the developmental delays and intellectual disabilities identified among the two probands with deletions. Taken together, this case series adds to the previously reported patients with and/or sequence variants and supports haploinsufficiency of both genes as a mechanism for a variable syndromic cranial phenotype with developmental delays and intellectual disability inherited in an autosomal dominant pattern.</description><identifier>ISSN: 2373-2865</identifier><identifier>ISSN: 2373-2873</identifier><identifier>EISSN: 2373-2873</identifier><identifier>DOI: 10.1101/mcs.a005991</identifier><identifier>PMID: 34117072</identifier><language>eng</language><publisher>United States: Cold Spring Harbor Laboratory Press</publisher><subject>Adolescent ; Cell differentiation ; Cell proliferation ; Child ; Child, Preschool ; Chromosome 19 ; Cranial sutures ; Craniosynostosis ; Deletion ; Developmental Disabilities - genetics ; Disabilities ; DNA Copy Number Variations ; DNA microarrays ; Ets-2 protein ; Female ; Gene Deletion ; Genes ; Genetic Association Studies ; Genetic Predisposition to Disease - genetics ; Genetic screening ; Genetic Testing ; Haploinsufficiency ; Heterozygote ; Humans ; Intellectual disabilities ; Intellectual Disability - genetics ; Macrocephaly ; Male ; Membrane Proteins - genetics ; Morphology ; Neurodevelopmental disorders ; Neurodevelopmental Disorders - genetics ; Phenotype ; Phenotypes ; Proto-Oncogene Protein c-ets-2 - genetics ; Repressor Proteins - genetics ; Research Report ; Sequences ; Signal transduction ; Skull - abnormalities ; Skull - growth &amp; development ; Skull - pathology ; Sodium-Potassium-Exchanging ATPase - genetics ; Transcription Factors - genetics</subject><ispartof>Cold Spring Harbor molecular case studies, 2021-06, Vol.7 (3), p.a005991</ispartof><rights>2021 Singh et al.; Published by Cold Spring Harbor Laboratory Press.</rights><rights>Copyright Cold Spring Harbor Laboratory Press Jun 2021</rights><rights>2021</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c409t-92420e754023a41c8d61594178e3b84158594c65c815940155983fd0e37532543</citedby><cites>FETCH-LOGICAL-c409t-92420e754023a41c8d61594178e3b84158594c65c815940155983fd0e37532543</cites><orcidid>0000-0001-5720-1864 ; 0000-0001-8983-5466</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8208047/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8208047/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,27903,27904,53769,53771</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/34117072$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Singh, Ram</creatorcontrib><creatorcontrib>Cohen, Ana S A</creatorcontrib><creatorcontrib>Poulton, Cathryn</creatorcontrib><creatorcontrib>Hjortshøj, Tina Duelund</creatorcontrib><creatorcontrib>Akahira-Azuma, Moe</creatorcontrib><creatorcontrib>Mendiratta, Geetu</creatorcontrib><creatorcontrib>Khan, Wahab A</creatorcontrib><creatorcontrib>Azmanov, Dimitar N</creatorcontrib><creatorcontrib>Woodward, Karen J</creatorcontrib><creatorcontrib>Kirchhoff, Maria</creatorcontrib><creatorcontrib>Shi, Lisong</creatorcontrib><creatorcontrib>Edelmann, Lisa</creatorcontrib><creatorcontrib>Baynam, Gareth</creatorcontrib><creatorcontrib>Scott, Stuart A</creatorcontrib><creatorcontrib>Jabs, Ethylin Wang</creatorcontrib><title>Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay</title><title>Cold Spring Harbor molecular case studies</title><addtitle>Cold Spring Harb Mol Case Stud</addtitle><description>The ETS2 repressor factor (ERF) is a transcription factor in the RAS-MEK-ERK signal transduction cascade that regulates cell proliferation and differentiation, and pathogenic sequence variants in the gene cause variable craniosynostosis inherited in an autosomal dominant pattern. The reported variants are largely loss-of-function, implying haploinsufficiency as a primary disease mechanism; however, gene deletions have not been reported previously. Here we describe three probands with macrocephaly, craniofacial dysmorphology, and global developmental delay. Clinical genetic testing for fragile X and other relevant sequencing panels were negative; however, chromosomal microarray identified heterozygous deletions (63.7-583.2 kb) on Chromosome 19q13.2 in each proband that together included five genes associated with Mendelian diseases ( , , , , and ). Parental testing indicated that the aberrations were apparently de novo in two of the probands and were inherited in the one proband with the smallest deletion. Deletion of is consistent with the reported loss-of-function variants, prompting clinical copy-number-variant classifications of likely pathogenic. 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Cohen, Ana S A ; Poulton, Cathryn ; Hjortshøj, Tina Duelund ; Akahira-Azuma, Moe ; Mendiratta, Geetu ; Khan, Wahab A ; Azmanov, Dimitar N ; Woodward, Karen J ; Kirchhoff, Maria ; Shi, Lisong ; Edelmann, Lisa ; Baynam, Gareth ; Scott, Stuart A ; Jabs, Ethylin Wang</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c409t-92420e754023a41c8d61594178e3b84158594c65c815940155983fd0e37532543</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Adolescent</topic><topic>Cell differentiation</topic><topic>Cell proliferation</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Chromosome 19</topic><topic>Cranial sutures</topic><topic>Craniosynostosis</topic><topic>Deletion</topic><topic>Developmental Disabilities - genetics</topic><topic>Disabilities</topic><topic>DNA Copy Number Variations</topic><topic>DNA microarrays</topic><topic>Ets-2 protein</topic><topic>Female</topic><topic>Gene Deletion</topic><topic>Genes</topic><topic>Genetic Association Studies</topic><topic>Genetic Predisposition to Disease - genetics</topic><topic>Genetic screening</topic><topic>Genetic Testing</topic><topic>Haploinsufficiency</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Intellectual disabilities</topic><topic>Intellectual Disability - genetics</topic><topic>Macrocephaly</topic><topic>Male</topic><topic>Membrane Proteins - genetics</topic><topic>Morphology</topic><topic>Neurodevelopmental disorders</topic><topic>Neurodevelopmental Disorders - genetics</topic><topic>Phenotype</topic><topic>Phenotypes</topic><topic>Proto-Oncogene Protein c-ets-2 - genetics</topic><topic>Repressor Proteins - genetics</topic><topic>Research Report</topic><topic>Sequences</topic><topic>Signal transduction</topic><topic>Skull - abnormalities</topic><topic>Skull - growth &amp; 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The reported variants are largely loss-of-function, implying haploinsufficiency as a primary disease mechanism; however, gene deletions have not been reported previously. Here we describe three probands with macrocephaly, craniofacial dysmorphology, and global developmental delay. Clinical genetic testing for fragile X and other relevant sequencing panels were negative; however, chromosomal microarray identified heterozygous deletions (63.7-583.2 kb) on Chromosome 19q13.2 in each proband that together included five genes associated with Mendelian diseases ( , , , , and ). Parental testing indicated that the aberrations were apparently de novo in two of the probands and were inherited in the one proband with the smallest deletion. Deletion of is consistent with the reported loss-of-function variants, prompting clinical copy-number-variant classifications of likely pathogenic. Moreover, the recent characterization of heterozygous loss-of-function sequence variants as a cause of intellectual disability and neurodevelopmental disorders inherited in an autosomal dominant pattern is also consistent with the developmental delays and intellectual disabilities identified among the two probands with deletions. Taken together, this case series adds to the previously reported patients with and/or sequence variants and supports haploinsufficiency of both genes as a mechanism for a variable syndromic cranial phenotype with developmental delays and intellectual disability inherited in an autosomal dominant pattern.</abstract><cop>United States</cop><pub>Cold Spring Harbor Laboratory Press</pub><pmid>34117072</pmid><doi>10.1101/mcs.a005991</doi><orcidid>https://orcid.org/0000-0001-5720-1864</orcidid><orcidid>https://orcid.org/0000-0001-8983-5466</orcidid><oa>free_for_read</oa></addata></record>
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subjects Adolescent
Cell differentiation
Cell proliferation
Child
Child, Preschool
Chromosome 19
Cranial sutures
Craniosynostosis
Deletion
Developmental Disabilities - genetics
Disabilities
DNA Copy Number Variations
DNA microarrays
Ets-2 protein
Female
Gene Deletion
Genes
Genetic Association Studies
Genetic Predisposition to Disease - genetics
Genetic screening
Genetic Testing
Haploinsufficiency
Heterozygote
Humans
Intellectual disabilities
Intellectual Disability - genetics
Macrocephaly
Male
Membrane Proteins - genetics
Morphology
Neurodevelopmental disorders
Neurodevelopmental Disorders - genetics
Phenotype
Phenotypes
Proto-Oncogene Protein c-ets-2 - genetics
Repressor Proteins - genetics
Research Report
Sequences
Signal transduction
Skull - abnormalities
Skull - growth & development
Skull - pathology
Sodium-Potassium-Exchanging ATPase - genetics
Transcription Factors - genetics
title Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay
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