Dataset Information

Johanson-Blizzard's Syndrome with a Novel UBR1 Mutation.

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.

SUBMITTER: Demir D

PROVIDER: S-EPMC9236751 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature

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Johanson-Blizzard's Syndrome with a Novel <i>UBR1</i> Mutation.

Demir Damla D Kendir Demirkol Yasemin Y Gerenli Nelgin N Aktaş Karabay Ezgi E

Journal of pediatric genetics 20200904 2

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 ( <i>UBR1</i> ) 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 geneti ...[more]

PMID: 35769968

Dataset Information

Johanson-Blizzard's Syndrome with a Novel UBR1 Mutation.

Publications

Johanson-Blizzard's Syndrome with a Novel <i>UBR1</i> Mutation.

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