EXTL3-Associated Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities: A Lethal Phenotype

Demir E., Adim F., Dogen M. E., Aydogdu A., Yesil E., Mermer S., ...Daha Fazla

PEDIATRIC ALLERGY IMMUNOLOGY AND PULMONOLOGY, sa.4, ss.147-149, 2023 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Basım Tarihi: 2023
  • Doi Numarası: 10.1089/ped.2023.0079
  • Dergi Adı: PEDIATRIC ALLERGY IMMUNOLOGY AND PULMONOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, CINAHL, MEDLINE, Veterinary Science Database
  • Sayfa Sayıları: ss.147-149
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Background: Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) caused by Exostosin-Like Glycosyltransferase 3 (EXTL3) biallelic mutations is a very rare syndrome with only 16 cases reported in the literature. Skeletal dysplasia, neurodevelopmental delay, immunodeficiency, liver, and kidney cysts are the most common findings of this syndrome.Case Presentation: Here, we report on a patient who exhibited a lethal phenotype with clinical characteristics of this syndrome and had a homozygous pathogenic mutation in EXTL3 gene.Conclusions: ISDNA should be kept in mind in the differential diagnosis of patients presenting with neuro-immuno-skeletal dysplasia phenotype.