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International Journal of Molecular and Cellular Medicine، جلد ۶، شماره ۲، صفحات ۰-۰
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| عنوان فارسی |
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| چکیده فارسی مقاله |
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| کلیدواژههای فارسی مقاله |
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| عنوان انگلیسی |
A Novel Missense Mutation in the ALDH13 Gene Causes Anophthalmia in Two Unrelated Iranian Consanguineous Families |
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| چکیده انگلیسی مقاله |
Anophthalmia or microphthalmia (A/M) is a rare group of congenital/developmental ocular malformations, characterized by absent or small eye within the orbit affecting one or both eyes. It has complex etiology with chromosomal, monogenic with high heterogeneity, and environmental causes. We performed genome SNP-array analysis followed by autozygosity mapping and sequencing in the members of two families in which three individuals are suffering from severe bilateral anophthalmia. The genetic analysis revealed a novel missense c.709G>A mutation in exon 7 of ALDH1A3 (aldehyde dehydrogenase 1 family member A3), causing a substi tution of glycine (Gly) to arginine (Arg) at residue 237. This study consolidates the importance of ALDH1A3 gene screening in autosomal recessive anophthalmi a. This variation may also be suggestive of a founder effect in the southeastern area of Iran. |
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| کلیدواژههای انگلیسی مقاله |
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| نویسندگان مقاله |
محمدرضا دهقانی | mohammadreza dehghani
medical genetics research center, shahid sadoughi university of medical sciences, yazd, iran.
مسعود دهقان طزرجانی | masoud dehghan tezerjani
research and clinical center for infertility, shahid sadoughi university of medical sciences, yazd, iran.
زهرا متانت | zahra metanat
provincial clinical genetic counseling center, zahedan university of medical sciences zahedan, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی زاهدان (Zahedan university of medical sciences)
محمد یحیی وحیدی مهرجردی | mohammad yahya vahidi mehrjardi
medical genetics research center, shahid sadoughi university of medical sciences, yazd, iran.
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| نشانی اینترنتی |
http://ijmcmed.org/browse.php?a_code=A-10-1117-1&slc_lang=en&sid=en |
| فایل مقاله |
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| کد مقاله (doi) |
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| زبان مقاله منتشر شده |
en |
| موضوعات مقاله منتشر شده |
Genetics & Disease |
| نوع مقاله منتشر شده |
Case Report |
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