چاپ صفحه |  صفحه نخست سامانه |  چکیده مقاله |  نویسندگان |  دانلود مقاله | دانشگاه علوم پزشکی تبریز |
| Congenital short bowel syndrome (CSBS) is a rare congenital neonatal disorder. CSBS results from intestinal impairment during embryogenesis. Mutated CXADR-like membrane protein ( CLMP ) and Filamin A 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 CLMP 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 CLMP causes CSBS, leading to impaired intestinal development. |
| نویسنده | نفر چندم مقاله |
|---|---|
| مریم رضازاده | پنجم |
| جلال قره سوران | اول |
| بهناز سالک اصفهانی | اول |
| محسن مرادی | چهارم |
| میرهادی موسوی | پنجم |
| نام فایل | تاریخ درج فایل | اندازه فایل | دانلود |
|---|---|---|---|
| short bowel syndrom, 2019-SBS.pdf | 1398/04/04 | 344063 | دانلود |
| 37EE254E-F732-4923-ABC2-0A877D77A8C1.jpeg | 1398/04/12 | 1404389 | دانلود |
