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Report of Gastrointestinal defects and immunodeficiency syndrome (GIDID) in an Iranian family

عنوان مقاله: Report of Gastrointestinal defects and immunodeficiency syndrome (GIDID) in an Iranian family
شناسه ملی مقاله: GMED06_019
منتشر شده در ششمین سمینار یکروزه ژنتیک پزشکی تشخیصی- تحقیقی در سال 1398
مشخصات نویسندگان مقاله:

Saeed Farajzadeh Valilou - Department of Medical Genetics, Kasra Hospital, Tehran, Iran
Mohammad Salimi Asl - Department of Medical Genetics, Kasra Hospital, Tehran, Iran- Tehranlab Medical Genetics laboratory, Tehran, Iran
Javad Karimzad Hagh - Department of Medical Genetics, Kasra Hospital, Tehran, Iran

خلاصه مقاله:
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.

کلمات کلیدی:
Multiple gastrointestinal atresia, TTC7A, immunodeficiency

صفحه اختصاصی مقاله و دریافت فایل کامل: https://civilica.com/doc/944281/