Johanson-Blizzard's Syndrome with a Novel UBR1 Mutation

Damla Demir; Yasemin Kendir Demirkol; Nelgin GerenliEzgi Akta? Karabay

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Johanson-Blizzard's Syndrome with a Novel UBR1 Mutation

机译：Johanson-Blizzard's Syndrome with a Novel UBR1 Mutation

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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.

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来源
《Journal of pediatric genetics》 |2022年第2期|147-150|共4页
作者
Damla Demir; Yasemin Kendir Demirkol; Nelgin GerenliEzgi Akta? Karabay;
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作者单位

Department of Dermatology, ümraniye Training and Research Hospital, University of Health Science;

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原文格式 PDF
正文语种英语
中图分类儿科学;
关键词
aplasia cutis; facial dysmorphia; Johanson-Blizzard's syndrome; novel variants; pancreatic insufficiency; UBR1 gene;

Johanson-Blizzard's Syndrome with a Novel UBR1 Mutation

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