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Inflammatory Arthritis as a Possible Feature of Coffin-Siris Syndrome.

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Title: Inflammatory Arthritis as a Possible Feature of Coffin-Siris Syndrome.
Authors: Gomes, Sonia Melo, Dias, Cristina, Omoyinmi, Ebun, Compeyrot-Lacassagne, Sandrine, Klein, Nigel, Sebire, Neil J., Brogan, Paul
Source: Pediatrics. Jul2019, Vol. 144 Issue 1, p1-6. 6p.
Subjects: Rheumatoid arthritis risk factors, Human abnormalities, Brain, Developmental disabilities, Genes, Magnetic resonance imaging, People with intellectual disabilities, Microcephaly, Genetic mutation, Early diagnosis, Sequence analysis, Multiple human abnormalities, Genotypes, Disease complications
Abstract: Coffin-Siris syndrome (CSS) and Nicolaides-Baraitser syndrome (NBS) are 2 overlapping syndromes caused by mutations in genes of the BRG1/BRMassociated factor chromatin-remodeling complex, presenting with multiple malformations and intellectual disability. Musculoskeletal changes such as noninflammatory prominence of interphalangeal joints in hands, feet, and, to a lesser extent, knee joints are common in NBS (up to 85%) and also reported in CSS. We present the case of a 7-year-old boy with polyarthritis of several years' duration (without uveitis), developmental delay, microcephaly, and dysmorphic features reminiscent of NBS. Sanger sequencing of the SMARCA2 gene revealed no mutations. Laboratory test results were normal. With synovial biopsy, we confirmed a chronic inflammatory synovitis. Brain MRI revealed dysgenesis of the corpus callosum. Treatment with methotrexate and, subsequently, etanercept led to significant clinical improvement. Wholeexome sequencing revealed a de novo heterozygous nonsense mutation in the ARID1B gene, resulting in a premature stop codon (c.C5404T; p.R1802 x), a genotype consistent with CSS. The absence of significantly raised inflammatory markers and a clinical diagnosis of a genetic syndrome associated with noninflammatory joint changes may have contributed to this patient's polyarthritis being missed for several years. We propose that some patients with CSS may have inflammatory arthritis (with or without coexisting skeletal dysplasia), which may be helped by treatment as described herein. Early recognition and treatment of inflammatory arthritis in CSS would have a significant impact on reducing disease burden and improving quality of life for patients with this rare genetic syndrome. [ABSTRACT FROM AUTHOR]
Copyright of Pediatrics is the property of American Academy of Pediatrics and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: Inflammatory Arthritis as a Possible Feature of Coffin-Siris Syndrome.
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  Data: <searchLink fieldCode="AR" term="%22Gomes%2C+Sonia+Melo%22">Gomes, Sonia Melo</searchLink><br /><searchLink fieldCode="AR" term="%22Dias%2C+Cristina%22">Dias, Cristina</searchLink><br /><searchLink fieldCode="AR" term="%22Omoyinmi%2C+Ebun%22">Omoyinmi, Ebun</searchLink><br /><searchLink fieldCode="AR" term="%22Compeyrot-Lacassagne%2C+Sandrine%22">Compeyrot-Lacassagne, Sandrine</searchLink><br /><searchLink fieldCode="AR" term="%22Klein%2C+Nigel%22">Klein, Nigel</searchLink><br /><searchLink fieldCode="AR" term="%22Sebire%2C+Neil+J%2E%22">Sebire, Neil J.</searchLink><br /><searchLink fieldCode="AR" term="%22Brogan%2C+Paul%22">Brogan, Paul</searchLink>
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  Data: <searchLink fieldCode="JN" term="%22Pediatrics%22">Pediatrics</searchLink>. Jul2019, Vol. 144 Issue 1, p1-6. 6p.
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  Data: <searchLink fieldCode="DE" term="%22Rheumatoid+arthritis+risk+factors%22">Rheumatoid arthritis risk factors</searchLink><br /><searchLink fieldCode="DE" term="%22Human+abnormalities%22">Human abnormalities</searchLink><br /><searchLink fieldCode="DE" term="%22Brain%22">Brain</searchLink><br /><searchLink fieldCode="DE" term="%22Developmental+disabilities%22">Developmental disabilities</searchLink><br /><searchLink fieldCode="DE" term="%22Genes%22">Genes</searchLink><br /><searchLink fieldCode="DE" term="%22Magnetic+resonance+imaging%22">Magnetic resonance imaging</searchLink><br /><searchLink fieldCode="DE" term="%22People+with+intellectual+disabilities%22">People with intellectual disabilities</searchLink><br /><searchLink fieldCode="DE" term="%22Microcephaly%22">Microcephaly</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+mutation%22">Genetic mutation</searchLink><br /><searchLink fieldCode="DE" term="%22Early+diagnosis%22">Early diagnosis</searchLink><br /><searchLink fieldCode="DE" term="%22Sequence+analysis%22">Sequence analysis</searchLink><br /><searchLink fieldCode="DE" term="%22Multiple+human+abnormalities%22">Multiple human abnormalities</searchLink><br /><searchLink fieldCode="DE" term="%22Genotypes%22">Genotypes</searchLink><br /><searchLink fieldCode="DE" term="%22Disease+complications%22">Disease complications</searchLink>
– Name: Abstract
  Label: Abstract
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  Data: Coffin-Siris syndrome (CSS) and Nicolaides-Baraitser syndrome (NBS) are 2 overlapping syndromes caused by mutations in genes of the BRG1/BRMassociated factor chromatin-remodeling complex, presenting with multiple malformations and intellectual disability. Musculoskeletal changes such as noninflammatory prominence of interphalangeal joints in hands, feet, and, to a lesser extent, knee joints are common in NBS (up to 85%) and also reported in CSS. We present the case of a 7-year-old boy with polyarthritis of several years' duration (without uveitis), developmental delay, microcephaly, and dysmorphic features reminiscent of NBS. Sanger sequencing of the SMARCA2 gene revealed no mutations. Laboratory test results were normal. With synovial biopsy, we confirmed a chronic inflammatory synovitis. Brain MRI revealed dysgenesis of the corpus callosum. Treatment with methotrexate and, subsequently, etanercept led to significant clinical improvement. Wholeexome sequencing revealed a de novo heterozygous nonsense mutation in the ARID1B gene, resulting in a premature stop codon (c.C5404T; p.R1802 x), a genotype consistent with CSS. The absence of significantly raised inflammatory markers and a clinical diagnosis of a genetic syndrome associated with noninflammatory joint changes may have contributed to this patient's polyarthritis being missed for several years. We propose that some patients with CSS may have inflammatory arthritis (with or without coexisting skeletal dysplasia), which may be helped by treatment as described herein. Early recognition and treatment of inflammatory arthritis in CSS would have a significant impact on reducing disease burden and improving quality of life for patients with this rare genetic syndrome. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
  Label:
  Group: Ab
  Data: <i>Copyright of Pediatrics is the property of American Academy of Pediatrics and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=pbh&AN=139512546
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      – Type: doi
        Value: 10.1542/peds.2018-1741
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      – Code: eng
        Text: English
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    Subjects:
      – SubjectFull: Rheumatoid arthritis risk factors
        Type: general
      – SubjectFull: Human abnormalities
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      – SubjectFull: Brain
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      – SubjectFull: Developmental disabilities
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      – SubjectFull: Genes
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      – SubjectFull: Magnetic resonance imaging
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      – SubjectFull: Genetic mutation
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      – SubjectFull: Early diagnosis
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      – SubjectFull: Sequence analysis
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              Text: Jul2019
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