Report of Gastrointestinal defects and immunodeficiency syndrome (GIDID) in an Iranian family
- سال انتشار: 1398
- محل انتشار: ششمین سمینار یکروزه ژنتیک پزشکی تشخیصی- تحقیقی
- کد COI اختصاصی: GMED06_019
- زبان مقاله: انگلیسی
- تعداد مشاهده: 596
نویسندگان
Department of Medical Genetics, Kasra Hospital, Tehran, Iran
Department of Medical Genetics, Kasra Hospital, Tehran, Iran- Tehranlab Medical Genetics laboratory, Tehran, Iran
Department of Medical Genetics, Kasra Hospital, Tehran, Iran
چکیده
Background: Gastrointestinal defects and immunodeficiency syndrome (GIDID) is a rare, severe congenital and autosomal recessive disease with manifestations of small and large intestinal atresia, ultimately leading to organ failure. Surgical outcomes are poor, and the condition is usually fatal within the first month of life. Some patients exhibit inflammatory bowel disease (IBD), and in some cases, the intestinal features are associated with either mild or severe combined immunodeficiency.Case presentation: We report a 3-month-old deceased female child from a consanguineous parents. She had a chronic diarrhea, malabsorbtion, duodenal atresia, polyhydramnios, stool at 34 weeks of gestation, and immuno deficiency. This family also had a male neonate which had died immediately after birth for unknown reason.Results: Using whole exome sequencing on mother of the deceased child, we identified a heterozygous missense variant NM_001288953:c.2392G> A (p.Ala798Thr) in TTC7A gene. The identified variant is classified pathogenic according to ACMG-AMP 2015 guideline. Further investigation was proceeded by sanger sequencing on both parents which the variant was confirmed on the mother and segregated in the father and normal daughter who were also heterozygote for c.2392G> A.Conclusion: GIDID syndrome is a rare gastrointestinal disease that we identified from parents of deceased offspring. Lacking samples at the time of performing the WES, we confined to clinical documents of the offspring and reported variants in the databases. In sum, precise clinical history combined with availability of a variant in the literature can provide definitive information in identification of causative variant in a family in addition to the co-segregation analysis.کلیدواژه ها
Multiple gastrointestinal atresia, TTC7A, immunodeficiencyاطلاعات بیشتر در مورد COI
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