Johanson-Blizzard's Syndrome with a Novel Mutation

Overview

Journal J Pediatr Genet

Publisher Thieme

Specialty Pediatrics

Date 2022 Jun 30

PMID 35769968

Authors

Damla Demir

Yasemin Kendir Demirkol

Nelgin Gerenli

Ezgi Aktas Karabay

Affiliations

Soon will be listed here.

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 ( ) 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 , c.4027_4028 del (p.Leu1343Valfs*7), which was not previously described in JBS in the literature.

Citing Articles

Johanson-Blizzard Syndrome: A Case Report From Bahrain With a Literature Review.

Isa H, Khudhair Z, Abdulla K, Idrees Z, Busehail M, Jawad Z Cureus. 2024; 16(3):e55969.

PMID: 38606259 PMC: 11007587. DOI: 10.7759/cureus.55969.

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