Johanson–Blizzard's Syndrome with a Novel UBR1 Mutation

Author:

Demir Damla1,Kendir Demirkol Yasemin2,Gerenli Nelgin3,Aktaş Karabay Ezgi4ORCID

Affiliation:

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

AbstractJohanson–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.

Publisher

Georg Thieme Verlag KG

Subject

Genetics(clinical),Pediatrics, Perinatology, and Child Health

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