ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromes

Akgun-Dogan O., Simsek-Kiper P. O., Taskiran E., Lissewski C., Brinkmann J., Schanze D., ...Daha Fazla

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.179, sa.12, ss.2474-2480, 2019 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 179 Sayı: 12
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1002/ajmg.a.61363
  • Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.2474-2480
  • Anahtar Kelimeler: ADA2, consanguinity, DADA2, Noonan syndrome-like disorder with loose anagen hair, SHOC2, ADENOSINE-DEAMINASE 2, SHOC2 GENE, MUTATION, PHENOTYPE, MACROPHAGES, GENOTYPE, DISEASE, BRAIN, CELLS
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Noonan syndrome-like disorder with loose anagen hair (NS/LAH) is one of the RASopathies, a group of clinically related developmental disorders caused by germline mutations in genes that encode components acting in the RAS/MAPK pathway. Among RASopathies, NS/LAH (OMIM 607721) is an extremely rare, multiple anomaly syndrome characterized by dysmorphic facial features similar to those observed in Noonan syndrome along with some distinctive ectodermal findings including easily pluckable, sparse, thin, and slow-growing hair. ADA2 deficiency (DADA2, OMIM 615688) is a monogenic autoinflammatory disorder caused by homozygous or compound heterozygous mutations in ADA2, with clinical features including recurrent fever, livedo racemosa, hepatosplenomegaly, and strokes as well as immune dysregulation. This is the first report of NS/LAH and ADA2 deficiency in the same individual. We report on a patient presenting with facial features, recurrent infections and ectodermal findings in whom both the clinical and molecular diagnoses of NS/LAH and ADA2 deficiency were established, respectively.