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LACC1 gene mutation in three sisters with polyarthritis without systemic features
  1. Ankita Singh1,
  2. Deepti Suri1,
  3. Pandiarajan Vignesh1,
  4. Gummadi Anjani2,
  5. Prince Jacob2,
  6. Katta M Girisha2
  1. 1 Pediatric Allergy Immunology Unit, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India
  2. 2 Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
  1. Correspondence to Dr Deepti Suri, Pediatric Allergy Immunology, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, 160012, India; surideepti{at}gmail.com

https://doi.org/10.1136/annrheumdis-2019-216263

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    Juvenile idiopathic arthritis (JIA) refers to a group of disorders characterised by wide phenotypic diversity and genetic heterogeneity. Disordered immune response to an environmental trigger in a genetically predisposed individual is the proposed mechanism for most JIA subtypes.1 2 There are emerging reports on new gene locus being identified especially in families with many affected members.3 4 We report three sisters with polyarthritis who were identified to have causative variant in Laccase domain containing one (LACC1) gene by whole exome sequencing.

    Case details

    A non-consanguineous family from north-western part of India reported with three daughters (P1, P2 and P3) having polyarticular joint disease. The onset of symptoms in the third child (11 months) prompted the parents to seek medical help. The eldest sister was 5 years and 9 months old, while the second daughter was 3 years old at the time of presentation. The chronology of symptoms was similar in all three children. Joint symptoms started in infancy at around 9–10 months of age with involvement of knee and ankle and rapidly progressed to involve small joints and cervical spine too (figure 1A–C). Over the next 2 years, multiple joint involvement, pain, deformities and contractures …

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    Footnotes

    • Handling editor Josef S Smolen

    • Presented at This work has previously been presented as a poster in EULAR 2019 congress and abstract has been published in Annals of Rheumatic diseases (FRI0578).

    • Correction notice This article has been corrected since it published Online First. The author affiliations have been updated.

    • Contributors All authors have contributed to the preparation of manuscript and in the patient management.

    • Funding Genetic analysis was done under the Department of Science and Technology, Government of India, Grant/Award Number: SB/SO/HS/005/2014.

    • Competing interests None declared.

    • Patient consent for publication Parental/guardian consent obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.