Johanson-Blizzard's Syndrome with a Novel UBR1 Mutation

Damla Demir; Yasemin Kendir Demirkol; Nelgin Gerenli; Ezgi Aktaş Karabay

doi:10.1055/s-0040-1716331

Johanson-Blizzard's Syndrome with a Novel UBR1 Mutation

J Pediatr Genet. 2020 Sep 4;11(2):147-150. doi: 10.1055/s-0040-1716331. eCollection 2022 Jun.

Authors

Damla Demir¹, Yasemin Kendir Demirkol², Nelgin Gerenli³, Ezgi Aktaş Karabay⁴

Affiliations

¹ Department of Dermatology, Ümraniye Training and Research Hospital, University of Health Science, Istanbul, Turkey.
² Department of Pediatrics Genetics, Ümraniye Training and Research Hospital, University of Health Science, Istanbul, Turkey.
³ Department of Pediatrics Gastroenterology, Ümraniye Training and Research Hospital, University of Health Science, Istanbul, Turkey.
⁴ Department of Dermatology, Faculty of Medicine, Bahçeşehir University, Istanbul, Turkey.

Abstract

Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive genetic disorder, characterized by exocrine pancreatic insufficiency, a distinct abnormal facial appearance and varying degrees of growth retardation. Ubiquitin protein ligase E3 component n-recognin 1 ( UBR1 ) gene mutations are responsible for the syndrome. Here, we describe a 2-month-old female infant, who presented with oily diarrhea, facial dysmorphia, scalp defect, hearing defects, and growth impairment. Molecular genetic testing revealed a novel frameshift mutation in UBR1 , c.4027_4028 del (p.Leu1343Valfs*7), which was not previously described in JBS in the literature.

Keywords: Johanson–Blizzard's syndrome; UBR1 gene; aplasia cutis; facial dysmorphia; novel variants; pancreatic insufficiency.

Publication types

Case Reports

Grants and funding

Funding None.