Johanson-Blizzard's Syndrome with a Novel UBR1 Mutation

被引：4

作者：

Demir, Damla ^{[1
]}

Demirkol, Yasemin Kendir ^{[2
]}

Gerenli, Nelgin ^{[3
]}

Karabay, Ezgi Aktas ^{[4
]}

机构：

[1] Univ Hlth Sci, Umraniye Training & Res Hosp, Dept Dermatol, Istanbul, Turkey

[2] Univ Hlth Sci, Umraniye Training & Res Hosp, Dept Pediat Genet, Istanbul, Turkey

[3] Univ Hlth Sci, Umraniye Training & Res Hosp, Dept Pediat Gastroenterol, Istanbul, Turkey

[4] Bahcesehir Univ, Fac Med, Dept Dermatol, Istanbul, Turkey

来源：

JOURNAL OF PEDIATRIC GENETICS | 2022年 / 11卷 / 02期

关键词：

aplasia cutis; facial dysmorphia; Johanson-Blizzard's syndrome; novel variants; pancreatic insufficiency; UBR1gene; GENE; PHENOTYPE; PATIENT;

D O I：

10.1055/s-0040-1716331

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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.

引用

页码：147 / 150

页数：4

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