Portal de investigación
Aicardi-Goutieres syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period
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Autores de IIS La Fe
Grupos
Abstract
Background Aicardi-Gouti & egrave;res Syndrome is a monogenic type 1 interferonopathy with infantile onset, characterized by a variable degree of neurological damage. Approximately 7% of Aicardi-Gouti & egrave;res Syndrome cases are caused by pathogenic variants in the ADAR gene and are classified as Aicardi-Gouti & egrave;res Syndrome type 6. Here, we present a new homozygous pathogenic variant in the ADAR gene. Currently, Janus Kinase inhibitors have been proposed to treat selected interferonopathies such as Aicardi-Gouti & egrave;res Syndrome, although limited information is available on its use and results in the neonatal presentation of this disease. Case presentation We present two siblings, a male neonate with congenital petechial rash, severe thrombopenia and generalized hypotonia and his deceased sister who had normal development until 5 months of age, when she suffered acute encephalopathy. We describe the clinical course, complementary examinations and follow-up with early treatment of the newborn with ruxolitinib. The homozygous variant c.2908G > A (p.Ala970Thr) in the ADAR gene was found in both siblings, parents were heterozygous carriers. Conclusions The homozygous variant c.2908G > A (p.Ala970Thr) in the ADAR gene causes Aicardi-Gouti & egrave;res Syndrome type 6. Intrafamilial phenotypic spectrum of the disease varies among individuals with the same pathogenic variant. Early initiation of ruxolitinib improved systemic signs but did not prevent the progression of neurological disease.
© 2024. The Author(s).
Datos de la publicación
- ISSN/ISSNe:
- 1546-0096, 1546-0096
- Tipo:
- Article
- Páginas:
- 110-110
- PubMed:
- 39732715
- Factor de Impacto:
- 0,711 SCImago ℠
- Cuartil:
- Q2 SCImago ℠
Pediatric Rheumatology BMC
Citas Recibidas en Web of Science: 1
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Keywords
- Aicardi-gouti & egrave;res syndrome; Type 1 interferonopathy; ADAR gene; Ruxolitinib; Infantile encephalopathy
Cita
GABALDON A,MARTIN C,MARTI M,LOPEZ A,LLORENS R,BESELER B,MARTIN S,LOPEZ B,CALVO I,HERNANDEZ S,ROSELLO M,ORELLANA C,MARTINEZ F. Aicardi-Goutieres syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period. Pediatr Rheumatol Online J. 2024. 22. (1):p. 110-110. IF:2,300. (2).