A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation.

Patel, Nisha; Khan, Arif O; Al-Saif, Maher; Moghrabi, Walid N; AlMaarik, Balsam M; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Alshidi, Tarfa; Alobeid, Eman; Alomar, Rana A; Al-Harbi, Saad; Abouelhoda, Mohamed; Khabar, Khalid S A; Alkuraya, Fowzan S

Patel, Nisha; Khan, Arif O; Al-Saif, Maher; Moghrabi, Walid N; AlMaarik, Balsam M; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Alshidi, Tarfa; Alobeid, Eman; Alomar, Rana A; Al-Harbi, Saad; Abouelhoda, Mohamed; Khabar, Khalid S A; Alkuraya, Fowzan S.

Affiliation

Patel N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Khan AO; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Al-Saif M; Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, 112412, United Arab Emirates.
Moghrabi WN; Program in BioMolecular Research, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
AlMaarik BM; Program in BioMolecular Research, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Ibrahim N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Abdulwahab F; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Hashem M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Alshidi T; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Alobeid E; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Alomar RA; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Al-Harbi S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Abouelhoda M; King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
Khabar KSA; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Alkuraya FS; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.

Genome Biol ; 18(1): 144, 2017 07 28.

Article in En | MEDLINE | ID: mdl-28754144

Subject(s)

3' Untranslated Regions; AU Rich Elements; Corneal Dystrophies, Hereditary/genetics; Mutation; Phenotype; Sodium-Bicarbonate Symporters/genetics; Adult; Base Sequence; Binding Sites; Cell Line, Tumor; Child; Consanguinity; Cornea/metabolism; Cornea/pathology; Corneal Dystrophies, Hereditary/metabolism; Corneal Dystrophies, Hereditary/pathology; Female; Gene Expression Regulation; Genes, Reporter; Humans; Luciferases/genetics; Luciferases/metabolism; Male; Mendelian Randomization Analysis; Pedigree; RNA Stability; Sodium-Bicarbonate Symporters/metabolism

Key words

3'UTR; AU-rich elements; Cornea; Tissue-specific; Variable expressivity

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Corneal Dystrophies, Hereditary / 3' Untranslated Regions / Sodium-Bicarbonate Symporters / AU Rich Elements / Mutation Limits: Adult / Child / Female / Humans / Male Language: En Journal: Genome Biol Journal subject: BIOLOGIA MOLECULAR / GENETICA Year: 2017 Document type: Article Affiliation country: Saudi Arabia

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