Demir Damla, Kendir Demirkol Yasemin, Gerenli Nelgin, Aktaş Karabay Ezgi
Department of Dermatology, Ümraniye Training and Research Hospital, University of Health Science, Istanbul, Turkey.
Department of Pediatrics Genetics, Ümraniye Training and Research Hospital, University of Health Science, Istanbul, Turkey.
J Pediatr Genet. 2020 Sep 4;11(2):147-150. doi: 10.1055/s-0040-1716331. eCollection 2022 Jun.
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.
约汉森-布莱兹综合征（JBS）是一种罕见的常染色体隐性遗传病，其特征为外分泌性胰腺功能不全、独特的面部外观异常以及不同程度的生长发育迟缓。泛素蛋白连接酶E3组分n-识别蛋白1（ ）基因突变是导致该综合征的原因。在此，我们报告一名2个月大的女婴，她出现了油性腹泻、面部畸形、头皮缺损、听力缺陷和生长发育障碍。分子遗传学检测发现 基因存在一种新的移码突变，即c.4027_4028del（p.Leu1343Valfs*7），该突变在以往关于JBS的文献中未曾报道。
