سامانه مدیریت نشریات علمی دانشگاه علوم پزشکی مشهد

Ebadi, Nader, Javadi, Sepehr, Salmani, TayyebAli, Miryounesi, Mohammad, Yassaee, Vahid Reza, Ghafouri-Fard, Soudeh. (1396). Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Caused by a Novel Mutation in EDAR Gene. , 6(1), 6899-6902. doi: 10.22038/ijp.2017.28529.2480
Nader Ebadi; Sepehr Javadi; TayyebAli Salmani; Mohammad Miryounesi; Vahid Reza Yassaee; Soudeh Ghafouri-Fard. "Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Caused by a Novel Mutation in EDAR Gene". , 6, 1, 1396, 6899-6902. doi: 10.22038/ijp.2017.28529.2480
Ebadi, Nader, Javadi, Sepehr, Salmani, TayyebAli, Miryounesi, Mohammad, Yassaee, Vahid Reza, Ghafouri-Fard, Soudeh. (1396). 'Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Caused by a Novel Mutation in EDAR Gene', , 6(1), pp. 6899-6902. doi: 10.22038/ijp.2017.28529.2480
Ebadi, Nader, Javadi, Sepehr, Salmani, TayyebAli, Miryounesi, Mohammad, Yassaee, Vahid Reza, Ghafouri-Fard, Soudeh. Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Caused by a Novel Mutation in EDAR Gene. , 1396; 6(1): 6899-6902. doi: 10.22038/ijp.2017.28529.2480

Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Caused by a Novel Mutation in EDAR Gene

Journal of Pediatric Perspectives
مقاله 13، دوره 6، شماره 1 - شماره پیاپی 49، فروردین 2018، صفحه 6899-6902    اصل مقاله (306.88 K)
نوع مقاله: case report
شناسه دیجیتال (DOI): 10.22038/ijp.2017.28529.2480
نویسندگان
Nader Ebadi1؛ Sepehr Javadi1؛ TayyebAli Salmani1؛ Mohammad Miryounesi2؛ Vahid Reza Yassaee2؛ Soudeh Ghafouri-Fard* 1
1Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
2Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
چکیده
Backgrounds: Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder, distinguished by hypotrichosis, hypohidrosis, and hypodontia. HDE can be inherited in X-linked recessive manner as a result of mutations in the ectodysplasin A (EDA) gene as well as autosomal dominant and autosomal recessive manners both of them caused by mutations in EDA receptor (EDAR) and EDAR-associated death domain (EDARADD) genes.
Findings: In this report, we investigated a consanguineous Iranian family with autosomal recessive form of HED. A homozygous missense mutation was detected in exon 1 of EDAR gene in the proband (c.278C>G) resulting in p.C93S that alters the sequence of the EDAR protein.
Conclusions: We facilitated the effective genetic counseling and prenatal diagnosis in this family through detection of the disease causing mutation.
کلیدواژه‌ها
Ectodermal dysplasia؛ EDAR؛ Mutation
آمار
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