Genetic analysis of SOX2 and VSX2 genes in 27 Egyptian families with anophthalmia and microphthalmia

Ophthalmic Genet. 2017 Sep-Oct;38(5):498-500. doi: 10.1080/13816810.2017.1279184. Epub 2017 Jan 25.

Authors

Tamer H A Ammar¹, Somaia Ismail¹, Ossama Abd Al-Motaal Mansour², Mostafa M El-Shafey², Ahmed S Doghish², Ahmad M Kamal³, Ghada M H Abdel-Salam⁴

Affiliations

¹ a Medical Molecular Genetics Department , Human Genetics and Genome Research Division, National Research Centre , Cairo , Egypt.
² b Biochemistry Department , Faculty of Pharmacy, Al-Azhar University , Cairo , Egypt.
³ c Ophthalmology Department , Cairo University , Cairo , Egypt.
⁴ d Clinical Genetics Department , Human Genetics and Genome Research Division, National Research Centre , Cairo , Egypt.

PMID: 28121235
DOI: 10.1080/13816810.2017.1279184

No abstract available

Publication types

Letter

MeSH terms

Adult
Anophthalmos / diagnostic imaging
Anophthalmos / genetics*
Codon, Nonsense*
Consanguinity
DNA Mutational Analysis
Egypt
Female
Genetic Testing
Homeodomain Proteins / genetics*
Humans
Infant
Magnetic Resonance Imaging
Male
Microphthalmos / diagnostic imaging
Microphthalmos / genetics*
Pedigree
Polymerase Chain Reaction
Polymorphism, Single Nucleotide / genetics
SOXB1 Transcription Factors / genetics*
Transcription Factors / genetics*

Substances

Codon, Nonsense
Homeodomain Proteins
SOX2 protein, human
SOXB1 Transcription Factors
Transcription Factors
VSX2 protein, human