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

Johanson-Blizzard's Syndrome with a Novel UBR1 Mutation

Damla Demir  1 , Yasemin Kendir Demirkol  2 , Nelgin Gerenli  3 , Ezgi Aktaş Karabay  4
Affiliations
Case Reports

Johanson-Blizzard's Syndrome with a Novel UBR1 Mutation

Damla Demir et al. J Pediatr Genet. .

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.

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Conflict of interest statement

Conflict of Interest None declared.

Figures

Fig. 1
Fig. 1
(A,B) Dysmorphic facial features: wide forehead, sparse eyebrows, upslanting palpebral fissures, mild hypoplasia of the nasal alae, and thin upper lip.
Fig. 2
Fig. 2
Erythematous scar tissue and absence of hair follicles on this patch, consistent with aplasia cutis congenita.
Fig. 3
Fig. 3
UBR1 gene mutations in our patient and her parents (the father and the mother showing heterozygous mutation, and the patient showing homozygous).
See this image and copyright information in PMC

References

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