伊朗一名患者因基因发生突变导致先天性短肠综合征的首例报告。
First Report of Congenital Short Bowel Syndrome in an Iranian Patient Caused by a Mutation in the Gene.
作者信息
Gharesouran Jalal, Esfahani Behnaz Salek, Valilou Saeed Farajzadeh, Moradi Mohsen, Mousavi Mir Hadi, Rezazadeh Maryam
机构信息
Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.
Division of Medical Genetics, Tabriz Children's Hospital, University of Medical Sciences, Tabriz, Iran.
出版信息
J Pediatr Genet. 2019 Jun;8(2):73-80. doi: 10.1055/s-0038-1675339. Epub 2018 Oct 26.
Congenital short bowel syndrome (CSBS) is a rare congenital neonatal disorder. CSBS results from intestinal impairment during embryogenesis. Mutated ( ) and genes are involved in the cause of CSBS. In this study, due to our misdiagnosis, we had to perform whole exome sequencing on the patient, and also we implemented cosegregation analysis on his parents with consanguineous marriage and also parents' mothers. We identified a homozygous loss of function mutation in the gene in exon 5 (c.664C > T, p.R222X). Also, both parents and grandmothers of the proband were heterozygous for this mutation. Loss of function mutation in causes CSBS, leading to impaired intestinal development.
先天性短肠综合征（CSBS）是一种罕见的先天性新生儿疾病。CSBS是由胚胎发育过程中的肠道损伤引起的。突变的（ ）和基因与CSBS的病因有关。在本研究中，由于我们的误诊，我们不得不对患者进行全外显子组测序，并且我们还对其近亲结婚的父母以及父母的母亲进行了共分离分析。我们在第5外显子中鉴定出该基因的纯合功能丧失突变（c.664C>T，p.R222X）。此外，先证者的父母和祖母均为该突变的杂合子。该基因的功能丧失突变导致CSBS，进而导致肠道发育受损。
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