سامانه مدیریت نشریات علمی دانشگاه علوم پزشکی مشهد

Ghafouri-Fard, Soudeh, Fardaei, Majid, Tabei, Seyed Mohammad Bagher, Dianatpour, Mehdi, Miryounesi, Mohammad. (1396). A CDH3 Mutation is Segregated in an Iranian Family with Congenital Hypotrichosis and Juvenile Macular Dystrophy. , 6(1), 6999-7002. doi: 10.22038/ijp.2017.27276.2350
Soudeh Ghafouri-Fard; Majid Fardaei; Seyed Mohammad Bagher Tabei; Mehdi Dianatpour; Mohammad Miryounesi. "A CDH3 Mutation is Segregated in an Iranian Family with Congenital Hypotrichosis and Juvenile Macular Dystrophy". , 6, 1, 1396, 6999-7002. doi: 10.22038/ijp.2017.27276.2350
Ghafouri-Fard, Soudeh, Fardaei, Majid, Tabei, Seyed Mohammad Bagher, Dianatpour, Mehdi, Miryounesi, Mohammad. (1396). 'A CDH3 Mutation is Segregated in an Iranian Family with Congenital Hypotrichosis and Juvenile Macular Dystrophy', , 6(1), pp. 6999-7002. doi: 10.22038/ijp.2017.27276.2350
Ghafouri-Fard, Soudeh, Fardaei, Majid, Tabei, Seyed Mohammad Bagher, Dianatpour, Mehdi, Miryounesi, Mohammad. A CDH3 Mutation is Segregated in an Iranian Family with Congenital Hypotrichosis and Juvenile Macular Dystrophy. , 1396; 6(1): 6999-7002. doi: 10.22038/ijp.2017.27276.2350

A CDH3 Mutation is Segregated in an Iranian Family with Congenital Hypotrichosis and Juvenile Macular Dystrophy

Journal of Pediatric Perspectives
مقاله 24، دوره 6، شماره 1 - شماره پیاپی 49، فروردین 2018، صفحه 6999-7002    اصل مقاله (234.74 K)
نوع مقاله: case report
شناسه دیجیتال (DOI): 10.22038/ijp.2017.27276.2350
نویسندگان
Soudeh Ghafouri-Fard1؛ Majid Fardaei2؛ Seyed Mohammad Bagher Tabei2؛ Mehdi Dianatpour2؛ Mohammad Miryounesi* 3
1Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
2Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.
3Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
چکیده
Backgrounds
Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare genetic disorder caused from mutations in the Cadherin 3 (CDH3) gene.
Results
In the present study, we reported an Iranian family with three affected members born to a consanguineous parent. Mutational analysis using whole exome sequencing has revealed a nucleotide change in CDH3 gene (NM_001793:exon8:c.830delG) which leads to a frame-shift mutation (p.G277Afs*20). No intra-familial phenotypic variation was found.
Conclusion
Identification of disease-causing mutation in this family facilitated the effective genetic counseling and prenatal diagnosis.
کلیدواژه‌ها
Cadherin-3؛ Gene؛ Mutation
آمار
تعداد مشاهده مقاله: 1,244
تعداد دریافت فایل اصل مقاله: 719