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مقاله
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Abstract
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Title:
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Identification of causative mutation in SALL1 gene in four patients with Eyelid Coloboma and Craniofacial Microsomia
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Author(s):
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Farzad Pakdel, Babak Behnam,Sahar Shojaee, Mohsen Bahmani Kashkouli, Mostafa Soltan Sanjari
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Presentation Type:
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Poster
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Subject:
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Ophthalmic Plastic and Reconstructive Surgery
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Others:
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Presenting Author:
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Name:
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Farzad Pakdel
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Affiliation :(optional)
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Eye Research Center, Ophthalmic Genetic center, Rassoul Akram Hospital, Tehran University of Medical Sciences Ophthalmology Department, Tehran University of Medical Sciences, Farabi Hospital
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E mail:
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fapakdel@gmail.com
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Phone:
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021-44644963
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Mobile:
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09123701876
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Purpose:
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We aimed to look for genetic abnormalities in our patients with Goldenhar phenotype.
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Methods:
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Patients with congenital hemi-facial microsomia abnormality and eyelid coloboma were investigated for SALL1 gene mutation in the genetic of the eye research center.
Genomic DNA was isolated from peripheral blood lymphocytes using standard DNA extraction methods.
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Results:
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Here we report 4 identified mutations in SALL1 (including 2 mutations in ORF resulting in protein alterations, and 2 mutations in the gene 5’ UTR) in the patients referred to ophthalmic plastic and pediatric ophthalmology clinic.
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Conclusion:
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This study could support the genetic etiology for a wide clinical spectrum of congenital facial mal-development consistent with the traditional picture of Goldenhar syndrome. In addition, it supports the heterogeneity in different disorders of the first and second branchial arch development.
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Attachment:
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674Dr Pakdel IRSO Poster.pptx
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