Novel Deleterious Sequence Change in the NLRP12 Gene in a Child with the Autoinflammatory Syndrome, Joint Hypermobility and Cutis Laxa from India.
Autoinflammatory syndrome
Hypermobility
New mutation
Porphyria
Stretchable skin
Journal
Mediterranean journal of hematology and infectious diseases
ISSN: 2035-3006
Titre abrégé: Mediterr J Hematol Infect Dis
Pays: Italy
ID NLM: 101530512
Informations de publication
Date de publication:
2019
2019
Historique:
received:
27
09
2018
accepted:
12
01
2019
entrez:
13
3
2019
pubmed:
13
3
2019
medline:
13
3
2019
Statut:
epublish
Résumé
An otherwise healthy male child of 9 years presented with paroxysmal fever and diffuse abdominal pain along with the loss of appetite and nausea lasting for 3-4 days every 4-6 weeks in the last two years. He also has stretchable skin and hypermobile joints, inherited from his mother who never suffered any paroxysmal attack of the kind. Work up for acute intermittent porphyria, lead poisoning, and familial Mediterranean fever was negative. A novel harmful sequence change in the NLRP12 gene was detected, and a diagnosis of NLRP12 associated autoinflammatory syndrome was made. This sequence change within the NLRP12 gene causing disease has not yet been reported in the literature and is the first such a case reported from India.
Identifiants
pubmed: 30858956
doi: 10.4084/MJHID.2019.018
pii: mjhid-11-1-e2019018
pmc: PMC6402545
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e2019018Déclaration de conflit d'intérêts
Competing interests: The authors have declared that no competing interests exist.
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