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2. TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

Author

Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Circulatory Health, Almousa, Hashem, Lewis, Sara A., Bakhtiari, Somayeh, Nordlie, Sandra Hinz, Pagnozzi, Alex, Magee, Helen, Efthymiou, Stephanie, Heim, Jennifer A., Cornejo, Patricia, Zaki, Maha S., Anwar, Najwa, Maqbool, Shazia, Rahman, Fatima, Neilson, Derek E., Vemuri, Anusha, Jin, Sheng Chih, Yang, Xiao Ru, Heidari, Abolfazl, Van Gassen, Koen, Trimouille, Aurélien, Thauvin-Robinet, Christel, Liu, James, Bruel, Ange Line, Tomoum, Hoda, Shata, Mennatallah O., Hashem, Mais O., Toosi, Mehran Beiraghi, Karimiani, Ehsan Ghayoor, Yeşil, Gözde, Lingappa, Lokesh, Baruah, Debangana, Ebrahimzadeh, Farnoosh, Van-Gils, Julien, Faivre, Laurence, Zamani, Mina, Galehdari, Hamid, Sadeghian, Saeid, Shariati, Gholamreza, Mohammad, Rahema, Van Der Smagt, Jasper, Qari, Alya, Vincent, John B., Innes, A. Micheil, Dursun, Ali, Özgül, R. Köksal, Akar, Halil Tuna, Bilguvar, Kaya, Mignot, Cyril, Keren, Boris, Raveli, Claudia, Burglen, Lydie, Afenjar, Alexandra, Kaat, Laura Donker, Van Slegtenhorst, Marjon, Alkuraya, Fowzan, Houlden, Henry, Padilla-Lopez, Sergio, Maroofian, Reza, Sacher, Michael, Kruer, Michael C., Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Circulatory Health, Almousa, Hashem, Lewis, Sara A., Bakhtiari, Somayeh, Nordlie, Sandra Hinz, Pagnozzi, Alex, Magee, Helen, Efthymiou, Stephanie, Heim, Jennifer A., Cornejo, Patricia, Zaki, Maha S., Anwar, Najwa, Maqbool, Shazia, Rahman, Fatima, Neilson, Derek E., Vemuri, Anusha, Jin, Sheng Chih, Yang, Xiao Ru, Heidari, Abolfazl, Van Gassen, Koen, Trimouille, Aurélien, Thauvin-Robinet, Christel, Liu, James, Bruel, Ange Line, Tomoum, Hoda, Shata, Mennatallah O., Hashem, Mais O., Toosi, Mehran Beiraghi, Karimiani, Ehsan Ghayoor, Yeşil, Gözde, Lingappa, Lokesh, Baruah, Debangana, Ebrahimzadeh, Farnoosh, Van-Gils, Julien, Faivre, Laurence, Zamani, Mina, Galehdari, Hamid, Sadeghian, Saeid, Shariati, Gholamreza, Mohammad, Rahema, Van Der Smagt, Jasper, Qari, Alya, Vincent, John B., Innes, A. Micheil, Dursun, Ali, Özgül, R. Köksal, Akar, Halil Tuna, Bilguvar, Kaya, Mignot, Cyril, Keren, Boris, Raveli, Claudia, Burglen, Lydie, Afenjar, Alexandra, Kaat, Laura Donker, Van Slegtenhorst, Marjon, Alkuraya, Fowzan, Houlden, Henry, Padilla-Lopez, Sergio, Maroofian, Reza, Sacher, Michael, and Kruer, Michael C.

Published
2024

3. The morbid genome of ciliopathies: an update

Author

Shamseldin, Hanan E., Shaheen, Ranad, Ewida, Nour, Bubshait, Dalal K., Alkuraya, Hisham, Almardawi, Elham, Howaidi, Ali, Sabr, Yasser, Abdalla, Ebtesam M., Alfaifi, Abdullah Y., Alghamdi, Jameel Mohammed, Alsagheir, Afaf, Alfares, Ahmed, Morsy, Heba, Hussein, Maged H., Al–Muhaizea, Mohammad A., Shagrani, Mohammad, Al Sabban, Essam, Salih, Mustafa A., Meriki, Neama, Khan, Rubina, Almugbel, Maisoon, Qari, Alya, Tulba, Maha, Mahnashi, Mohammed, Alhazmi, Khalid, Alsalamah, Abrar K., Nowilaty, Sawsan R., Alhashem, Amal, Hashem, Mais, Abdulwahab, Firdous, Ibrahim, Niema, Alshidi, Tarfa, AlObeid, Eman, Alenazi, Mona M., Alzaidan, Hamad, Rahbeeni, Zuhair, Al–Owain, Mohammed, Sogaty, Sameera, Seidahmed, Mohammed Zain, and Alkuraya, Fowzan S.

Published
2020
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4. TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

Author

Almousa, Hashem, primary, Lewis, Sara A, additional, Bakhtiari, Somayeh, additional, Nordlie, Sandra Hinz, additional, Pagnozzi, Alex, additional, Magee, Helen, additional, Efthymiou, Stephanie, additional, Heim, Jennifer A, additional, Cornejo, Patricia, additional, Zaki, Maha S, additional, Anwar, Najwa, additional, Maqbool, Shazia, additional, Rahman, Fatima, additional, Neilson, Derek E, additional, Vemuri, Anusha, additional, Jin, Sheng Chih, additional, Yang, Xiao-Ru, additional, Heidari, Abolfazl, additional, van Gassen, Koen, additional, Trimouille, Aurélien, additional, Thauvin-Robinet, Christel, additional, Liu, James, additional, Bruel, Ange-Line, additional, Tomoum, Hoda, additional, Shata, Mennatallah O, additional, Hashem, Mais O, additional, Toosi, Mehran Beiraghi, additional, Ghayoor Karimiani, Ehsan, additional, Yeşil, Gözde, additional, Lingappa, Lokesh, additional, Baruah, Debangana, additional, Ebrahimzadeh, Farnoosh, additional, Van-Gils, Julien, additional, Faivre, Laurence, additional, Zamani, Mina, additional, Galehdari, Hamid, additional, Sadeghian, Saeid, additional, Shariati, Gholamreza, additional, Mohammad, Rahema, additional, van der Smagt, Jasper, additional, Qari, Alya, additional, Vincent, John B, additional, Innes, A Micheil, additional, Dursun, Ali, additional, Özgül, R Köksal, additional, Akar, Halil Tuna, additional, Bilguvar, Kaya, additional, Mignot, Cyril, additional, Keren, Boris, additional, Raveli, Claudia, additional, Burglen, Lydie, additional, Afenjar, Alexandra, additional, Donker Kaat, Laura, additional, van Slegtenhorst, Marjon, additional, Alkuraya, Fowzan, additional, Houlden, Henry, additional, Padilla-Lopez, Sergio, additional, Maroofian, Reza, additional, Sacher, Michael, additional, and Kruer, Michael C, additional

Published
2023
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5. Autozygome and high throughput confirmation of disease genes candidacy

Author

Maddirevula, Sateesh, Alzahrani, Fatema, Al-Owain, Mohammed, Al Muhaizea, Mohammad A., Kayyali, Husam R., AlHashem, Amal, Rahbeeni, Zuhair, Al-Otaibi, Maha, Alzaidan, Hamad I., Balobaid, Ameera, El Khashab, Heba Y., Bubshait, Dalal K., Faden, Maha, Yamani, Suad Al, Dabbagh, Omar, Al-Mureikhi, Mariam, Jasser, Abdulla Al, Alsaif, Hessa S., Alluhaydan, Iram, Seidahmed, Mohammed Zain, Alabbasi, Bashair Hamza, Almogarri, Ibrahim, Kurdi, Wesam, Akleh, Hana, Qari, Alya, Al Tala, Saeed M., Alhomaidi, Suzan, Kentab, Amal Y., Salih, Mustafa A., Chedrawi, Aziza, Alameer, Seham, Tabarki, Brahim, Shamseldin, Hanan E., Patel, Nisha, Ibrahim, Niema, Abdulwahab, Firdous, Samira, Menasria, Goljan, Ewa, Abouelhoda, Mohamed, Meyer, Brian F., Hashem, Mais, Shaheen, Ranad, AlShahwan, Saad, Alfadhel, Majid, Ben-Omran, Tawfeg, Al-Qattan, Mohammad M., Monies, Dorota, and Alkuraya, Fowzan S.

Published
2019
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7. Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia

Author

Imtiaz, Faiqa, Al-Mubarak, Bashayer M., Al-Mostafa, Abeer, Al-Hamed, Mohamed, Allam, Rabab, Al-Hassnan, Zuhair, Al-Owain, Mohammed, Al-Zaidan, Hamad, Rahbeeni, Zuhair, Qari, Alya, Faqeih, Eissa Ali, Alasmari, Ali, Al-Mutairi, Fuad, Alfadhel, Majid, Eyaid, Wafaa M., Rashed, Mohamed S., Al-Sayed, Moeenaldeen, Baumgartner, Matthias R., Series editor, Patterson, Marc, Series editor, Rahman, Shamima, Series editor, Peters, Verena, Series editor, Morava, Eva, Editor-in-chief, Zschocke, Johannes, Series editor, and Baumgartner, Matthias, editor

Published
2016
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8. Novel UBE3Bmutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population

Author

Albakheet, AlBandary, Almuallami, Duaa, Almass, Rawan, Qari, Alya, Kenana, Rosan, AlQudairy, Hanan, Huma, Rozeena, Binomar, Hadeel, Wakil, Salma Majid, Alowain, Mohammad, Colak, Dilek, Kaya, Namik, and AlSayed, Moeenaldeen D.

Abstract

Biallelic mutations in UBE3Bcause Kaufman oculocerebrofacial syndrome (KOS; OMIM 244450) with a wide range of clinical manifestations. In this study, we employed genetic analyses including homozygosity mapping, candidate gene sequencing, whole exome sequencing, and confirmatory Sanger sequencing on eight patients from three unrelated consanguineous families. Our analysis yielded three different novel variants in UBE3B: a missense substitution [NM_130466.4: c.2975C>T; (p.Pro992Leu)] in the HECT domain in family 1, a 3-bp deletion within exon 14 [c.1692_1694delCTC; (p.Ser565del)] leading to removal of a serine residue in family 2, and a splice donor site variant in intron eight of UBE3B(c.630 + 1G>T) in family 3. Blepharophimosis, telecanthus, ptosis, intellectual disability and abnormal lipid profile were similar to those found in previously reported KOS patients. Longitudinal follow-up revealed rather marfanoid body habitus of the patients in family 1. This study reports eight patients from Saudi Arabia with novel deleterious variants in UBE3Band adds to the phenotypic spectrum of KOS.

Published
2024
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9. Molecular autopsy in maternal–fetal medicine

Author

Shamseldin, Hanan E, Kurdi, Wesam, Almusafri, Fatima, Alnemer, Maha, Alkaff, Alya, Babay, Zeneb, Alhashem, Amal, Tulbah, Maha, Alsahan, Nada, Khan, Rubina, Sallout, Bahauddin, Al Mardawi, Elham, Seidahmed, Mohamed Zain, Meriki, Niema, Alsaber, Yasser, Qari, Alya, Khalifa, Ola, Eyaid, Wafaa, Rahbeeni, Zuhair, Kurdi, Ahmed, Hashem, Mais, Alshidi, Tarfa, Al-Obeid, Eman, Abdulwahab, Firdous, Ibrahim, Niema, Ewida, Nour, El-Akouri, Karen, Al Mulla, Mariam, Ben-Omran, Tawfeg, Pergande, Matthias, Cirak, Sebahattin, Al Tala, Saeed, Shaheen, Ranad, Faqeih, Eissa, and Alkuraya, Fowzan S

Published
2018
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12. The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

Author

Monies, Dorota, Abouelhoda, Mohamed, AlSayed, Moeenaldeen, Alhassnan, Zuhair, Alotaibi, Maha, Kayyali, Husam, Al-Owain, Mohammed, Shah, Ayaz, Rahbeeni, Zuhair, Al-Muhaizea, Mohammad A., Alzaidan, Hamad I., Cupler, Edward, Bohlega, Saeed, Faqeih, Eissa, Faden, Maha, Alyounes, Banan, Jaroudi, Dyala, Goljan, Ewa, Elbardisy, Hadeel, Akilan, Asma, Albar, Renad, Aldhalaan, Hesham, Gulab, Shamshad, Chedrawi, Aziza, Al Saud, Bandar K, Kurdi, Wesam, Makhseed, Nawal, Alqasim, Tahani, El Khashab, Heba Y., Al-Mousa, Hamoud, Alhashem, Amal, Kanaan, Imaduddin, Algoufi, Talal, Alsaleem, Khalid, Basha, Talal A., Al-Murshedi, Fathiya, Khan, Sameena, Al-Kindy, Adila, Alnemer, Maha, Al-Hajjar, Sami, Alyamani, Suad, Aldhekri, Hasan, Al-Mehaidib, Ali, Arnaout, Rand, Dabbagh, Omar, Shagrani, Mohammad, Broering, Dieter, Tulbah, Maha, Alqassmi, Amal, Almugbel, Maisoon, AlQuaiz, Mohammed, Alsaman, Abdulaziz, Al-Thihli, Khalid, Sulaiman, Raashda A., Al-Dekhail, Wajeeh, Alsaegh, Abeer, Bashiri, Fahad A., Qari, Alya, Alhomadi, Suzan, Alkuraya, Hisham, Alsebayel, Mohammed, Hamad, Muddathir H, Szonyi, Laszlo, Abaalkhail, Faisal, Al-Mayouf, Sulaiman M., Almojalli, Hamad, Alqadi, Khalid S., Elsiesy, Hussien, Shuaib, Taghreed M., Seidahmed, Mohammed Zain, Abosoudah, Ibraheem, Akleh, Hana, AlGhonaium, Abdulaziz, Alkharfy, Turki M., Al Mutairi, Fuad, Eyaid, Wafa, Alshanbary, Abdullah, Sheikh, Farrukh R., Alsohaibani, Fahad I., Alsonbul, Abdullah, Al Tala, Saeed, Balkhy, Soher, Bassiouni, Randa, Alenizi, Ahmed S., Hussein, Maged H., Hassan, Saeed, Khalil, Mohamed, Tabarki, Brahim, Alshahwan, Saad, Oshi, Amira, Sabr, Yasser, Alsaadoun, Saad, Salih, Mustafa A., Mohamed, Sarar, Sultana, Habiba, Tamim, Abdullah, El-Haj, Moayad, Alshahrani, Saif, Bubshait, Dalal K., Alfadhel, Majid, Faquih, Tariq, El-Kalioby, Mohamed, Subhani, Shazia, Shah, Zeeshan, Moghrabi, Nabil, Meyer, Brian F., and Alkuraya, Fowzan S.

Published
2017
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13. A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families

Author

Aldosary, Mazhor, primary, Alsagob, Maysoon, additional, AlQudairy, Hanan, additional, González-Álvarez, Ana C., additional, Arold, Stefan T., additional, Dababo, Mohammad Anas, additional, Alharbi, Omar A., additional, Almass, Rawan, additional, AlBakheet, AlBandary, additional, AlSarar, Dalia, additional, Qari, Alya, additional, Al-Ansari, Mysoon M., additional, Oláhová, Monika, additional, Al-Shahrani, Saif A., additional, AlSayed, Moeenaldeen, additional, Colak, Dilek, additional, Taylor, Robert W., additional, AlOwain, Mohammed, additional, and Kaya, Namik, additional

Published
2022
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14. The morbid genome of ciliopathies: an update

Author

Shamseldin, Hanan E., primary, Shaheen, Ranad, additional, Ewida, Nour, additional, Bubshait, Dalal K., additional, Alkuraya, Hisham, additional, Almardawi, Elham, additional, Howaidi, Ali, additional, Sabr, Yasser, additional, Abdalla, Ebtesam M., additional, Alfaifi, Abdullah Y., additional, Mohammed Alghamdi, Jameel, additional, Alsagheir, Afaf, additional, Alfares, Ahmed, additional, Morsy, Heba, additional, Hussein, Maged H., additional, Al-Muhaizea, Mohammad A., additional, Shagrani, Mohammad, additional, Al Sabban, Essam, additional, Salih, Mustafa A., additional, Meriki, Neama, additional, Khan, Rubina, additional, Almugbel, Maisoon, additional, Qari, Alya, additional, Tulba, Maha, additional, Mahnashi, Mohammed, additional, Alhazmi, Khalid, additional, Alsalamah, Abrar K., additional, Nowilaty, Sawsan R., additional, Alhashem, Amal, additional, Hashem, Mais, additional, Abdulwahab, Firdous, additional, Ibrahim, Niema, additional, Alshidi, Tarfa, additional, AlObeid, Eman, additional, Alenazi, Mona M., additional, Alzaidan, Hamad, additional, Rahbeeni, Zuhair, additional, Al-Owain, Mohammed, additional, Sogaty, Sameera, additional, Zain Seidahmed, Mohammed, additional, and Alkuraya, Fowzan S., additional

Published
2022
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17. Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia

Author

Imtiaz, Faiqa, primary, Al-Mubarak, Bashayer M., additional, Al-Mostafa, Abeer, additional, Al-Hamed, Mohamed, additional, Allam, Rabab, additional, Al-Hassnan, Zuhair, additional, Al-Owain, Mohammed, additional, Al-Zaidan, Hamad, additional, Rahbeeni, Zuhair, additional, Qari, Alya, additional, Faqeih, Eissa Ali, additional, Alasmari, Ali, additional, Al-Mutairi, Fuad, additional, Alfadhel, Majid, additional, Eyaid, Wafaa M., additional, Rashed, Mohamed S., additional, and Al-Sayed, Moeenaldeen, additional

Published
2014
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18. SLC25A42 ‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion

Author

Aldosary, Mazhor, primary, Baselm, Shahad, additional, Abdulrahim, Maha, additional, Almass, Rawan, additional, Alsagob, Maysoon, additional, AlMasseri, Zainab, additional, Huma, Rozeena, additional, AlQuait, Laila, additional, Al‐Shidi, Tarfa, additional, Al‐Obeid, Eman, additional, AlBakheet, Albandary, additional, Alahideb, Basma, additional, Alahaidib, Lujane, additional, Qari, Alya, additional, Taylor, Robert W., additional, Colak, Dilek, additional, AlSayed, Moeenaldeen D., additional, and Kaya, Namik, additional

Published
2021
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21. SLC25A42‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion.

Author

Aldosary, Mazhor, Baselm, Shahad, Abdulrahim, Maha, Almass, Rawan, Alsagob, Maysoon, AlMasseri, Zainab, Huma, Rozeena, AlQuait, Laila, Al‐Shidi, Tarfa, Al‐Obeid, Eman, AlBakheet, Albandary, Alahideb, Basma, Alahaidib, Lujane, Qari, Alya, Taylor, Robert W., Colak, Dilek, AlSayed, Moeenaldeen D., and Kaya, Namik

Published
2021
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22. Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

Author

Monies, Dorota, primary, Abouelhoda, Mohammed, additional, Assoum, Mirna, additional, Moghrabi, Nabil, additional, Rafiullah, Rafiullah, additional, Almontashiri, Naif, additional, Alowain, Mohammed, additional, Alzaidan, Hamad, additional, Alsayed, Moeen, additional, Subhani, Shazia, additional, Cupler, Edward, additional, Faden, Maha, additional, Alhashem, Amal, additional, Qari, Alya, additional, Chedrawi, Aziza, additional, Aldhalaan, Hisham, additional, Kurdi, Wesam, additional, Khan, Sameena, additional, Rahbeeni, Zuhair, additional, Alotaibi, Maha, additional, Goljan, Ewa, additional, Elbardisy, Hadeel, additional, ElKalioby, Mohamed, additional, Shah, Zeeshan, additional, Alruwaili, Hibah, additional, Jaafar, Amal, additional, Albar, Ranad, additional, Akilan, Asma, additional, Tayeb, Hamsa, additional, Tahir, Asma, additional, Fawzy, Mohammed, additional, Nasr, Mohammed, additional, Makki, Shaza, additional, Alfaifi, Abdullah, additional, Akleh, Hanna, additional, Yamani, Suad, additional, Bubshait, Dalal, additional, Mahnashi, Mohammed, additional, Basha, Talal, additional, Alsagheir, Afaf, additional, Khaled, Musad Abu, additional, Alsaleem, Khalid, additional, Almugbel, Maisoon, additional, Badawi, Manal, additional, Bashiri, Fahad, additional, Bohlega, Saeed, additional, Sulaiman, Raashida, additional, Tous, Ehab, additional, Ahmed, Syed, additional, Algoufi, Talal, additional, Al-Mousa, Hamoud, additional, Alaki, Emadia, additional, Alhumaidi, Susan, additional, Alghamdi, Hadeel, additional, Alghamdi, Malak, additional, Sahly, Ahmed, additional, Nahrir, Shapar, additional, Al-Ahmari, Ali, additional, Alkuraya, Hisham, additional, Almehaidib, Ali, additional, Abanemai, Mohammed, additional, Alsohaibaini, Fahad, additional, Alsaud, Bandar, additional, Arnaout, Rand, additional, Abdel-Salam, Ghada M.H., additional, Aldhekri, Hasan, additional, AlKhater, Suzan, additional, Alqadi, Khalid, additional, Alsabban, Essam, additional, Alshareef, Turki, additional, Awartani, Khalid, additional, Banjar, Hanaa, additional, Alsahan, Nada, additional, Abosoudah, Ibraheem, additional, Alashwal, Abdullah, additional, Aldekhail, Wajeeh, additional, Alhajjar, Sami, additional, Al-Mayouf, Sulaiman, additional, Alsemari, Abdulaziz, additional, Alshuaibi, Walaa, additional, Altala, Saeed, additional, Altalhi, Abdulhadi, additional, Baz, Salah, additional, Hamad, Muddathir, additional, Abalkhail, Tariq, additional, Alenazi, Badi, additional, Alkaff, Alya, additional, Almohareb, Fahad, additional, Al Mutairi, Fuad, additional, Alsaleh, Mona, additional, Alsonbul, Abdullah, additional, Alzelaye, Somaya, additional, Bahzad, Shakir, additional, Manee, Abdulaziz Bin, additional, Jarrad, Ola, additional, Meriki, Neama, additional, Albeirouti, Bassem, additional, Alqasmi, Amal, additional, AlBalwi, Mohammed, additional, Makhseed, Nawal, additional, Hassan, Saeed, additional, Salih, Isam, additional, Salih, Mustafa A., additional, Shaheen, Marwan, additional, Sermin, Saadeh, additional, Shahrukh, Shamsad, additional, Hashmi, Shahrukh, additional, Shawli, Ayman, additional, Tajuddin, Ameen, additional, Tamim, Abdullah, additional, Alnahari, Ahmed, additional, Ghemlas, Ibrahim, additional, Hussein, Maged, additional, Wali, Sami, additional, Murad, Hatem, additional, Meyer, Brian F., additional, and Alkuraya, Fowzan S., additional

Published
2019
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23. The many faces of peroxisomal disorders: Lessons from a large Arab cohort

Author

Alshenaifi, Jumanah, primary, Ewida, Nour, additional, Anazi, Shams, additional, Shamseldin, Hanan E., additional, Patel, Nisha, additional, Maddirevula, Sateesh, additional, Al-Sheddi, Tarfa, additional, Alomar, Rana, additional, Alobeid, Eman, additional, Ibrahim, Niema, additional, Hashem, Mais, additional, Abdulwahab, Firdous, additional, Jacob, Minnie, additional, Alhashem, Amal, additional, Alzaidan, Hamad I., additional, Seidahmed, Mohammed Z., additional, Alhashemi, Nadia, additional, Rawashdeh, Rifaat, additional, Eyaid, Wafaa, additional, Al-Hassnan, Zuhair N., additional, Rahbeeni, Zuhair, additional, Alswaid, Abdulrahman, additional, Hadid, Adnan, additional, Qari, Alya, additional, Mohammed, Dia A., additional, El Khashab, Heba Y., additional, Alfadhel, Majid, additional, Abanemai, Mohammad, additional, Sunbul, Rawda, additional, Al Tala, Saeed, additional, Alkhalifi, Salwa, additional, Alkharfi, Turki, additional, Abouelhoda, Mohamed, additional, Monies, Dorota, additional, Al Tassan, Nada, additional, AlDubayan, Saud H., additional, Kurdi, Wesam, additional, Al-Owain, Mohammed, additional, Dasouki, Majed J., additional, Kentab, Amal Y., additional, Atyani, Suha, additional, Makhseed, Nawal, additional, Faqeih, Eissa, additional, Shaheen, Ranad, additional, and Alkuraya, Fowzan S., additional

Published
2018
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24. Molecular autopsy in maternal-fetal medicine

Author

Shamseldin, Hanan E., Kurdi, Wesam, Almusafri, Fatima, Alnemer, Maha, Alkaff, Alya, Babay, Zeneb, Alhashem, Amal, Tulbah, Maha, Alsahan, Nada, Khan, Rubina, Sallout, Bahauddin, Al Mardawi, Elham, Seidahmed, Mohamed Zain, Meriki, Niema, Alsaber, Yasser, Qari, Alya, Khalifa, Ola, Eyaid, Wafaa, Rahbeeni, Zuhair, Kurdi, Ahmed, Hashem, Mais, Alshidi, Tarfa, Al-Obeid, Eman, Abdulwahab, Firdous, Ibrahim, Niema, Ewida, Nour, El-Akouri, Karen, Al Mulla, Mariam, Ben-Omran, Tawfeg, Pergande, Matthias, Cirak, Sebahattin, Al Tala, Saeed, Shaheen, Ranad, Faqeih, Eissa, Alkuraya, Fowzan S., Shamseldin, Hanan E., Kurdi, Wesam, Almusafri, Fatima, Alnemer, Maha, Alkaff, Alya, Babay, Zeneb, Alhashem, Amal, Tulbah, Maha, Alsahan, Nada, Khan, Rubina, Sallout, Bahauddin, Al Mardawi, Elham, Seidahmed, Mohamed Zain, Meriki, Niema, Alsaber, Yasser, Qari, Alya, Khalifa, Ola, Eyaid, Wafaa, Rahbeeni, Zuhair, Kurdi, Ahmed, Hashem, Mais, Alshidi, Tarfa, Al-Obeid, Eman, Abdulwahab, Firdous, Ibrahim, Niema, Ewida, Nour, El-Akouri, Karen, Al Mulla, Mariam, Ben-Omran, Tawfeg, Pergande, Matthias, Cirak, Sebahattin, Al Tala, Saeed, Shaheen, Ranad, Faqeih, Eissa, and Alkuraya, Fowzan S.

Abstract

Purpose: The application of genomic sequencing to investigate unexplained death during early human development, a form of lethality likely enriched for severe Mendelian disorders, has been limited.& para;& para;Methods: In this study, we employed exome sequencing as a molecular autopsy tool in a cohort of 44 families with at least one death or lethal fetal malformation at any stage of in utero development. Where no DNA was available from the fetus, we performed molecular autopsy by proxy, i.e., through parental testing.& para;& para;Results: Pathogenic or likely pathogenic variants were identified in 22 families (50%), and variants of unknown significance were identified in further 15 families (34%). These variants were in genes known to cause embryonic or perinatal lethality (ALPL, GUSB, SLC17A5, MRPS16, THSD1, PIEZO1, and CTSA), genes known to cause Mendelian phenotypes that do not typically include embryonic lethality (INVS, FKTN, MYBPC3, COL11A2, KRIT1, ASCC1, NEB, LZTR1, TTC21B, AGT, KLHL41, GFPT1, and WDR81) and genes with no established links to human disease that we propose as novel candidates supported by embryonic lethality of their orthologs or other lines of evidence (MS4A7, SERPINA11, FCRL4, MYBPHL, PRPF19, VPS13D, KIAA1109, MOCS3, SVOPL, FENI, HSPB11, KIF19, and EXOC3L2).& para;& para;Conclusion: Our results suggest that molecular autopsy in pregnancy losses is a practical and high-yield alternative to traditional autopsy, and an opportunity for bringing precision medicine to the clinical practice of perinatology.

Published
2018

25. Twenty novel mutations in BCKDHA , BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease

Author

Imtiaz, Faiqa, primary, Al-Mostafa, Abeer, additional, Allam, Rabab, additional, Ramzan, Khushnooda, additional, Al-Tassan, Nada, additional, Tahir, Asma I., additional, Al-Numair, Nouf S., additional, Al-Hamed, Mohamed H., additional, Al-Hassnan, Zuhair, additional, Al-Owain, Mohammad, additional, Al-Zaidan, Hamad, additional, Al-Amoudi, Mohammad, additional, Qari, Alya, additional, Balobaid, Ameera, additional, and Al-Sayed, Moeenaldeen, additional

Published
2017
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29. KCNA4deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability

Author

Kaya, Namik, primary, Alsagob, Maysoon, additional, D'Adamo, Maria Cristina, additional, Al-Bakheet, Albandary, additional, Hasan, Sonia, additional, Muccioli, Maria, additional, Almutairi, Faten B, additional, Almass, Rawan, additional, Aldosary, Mazhor, additional, Monies, Dorota, additional, Mustafa, Osama M, additional, Alyounes, Banan, additional, Kenana, Rosan, additional, Al-Zahrani, Jawaher, additional, Naim, Eva, additional, Binhumaid, Faisal S, additional, Qari, Alya, additional, Almutairi, Fatema, additional, Meyer, Brian, additional, Plageman, Timothy F, additional, Pessia, Mauro, additional, Colak, Dilek, additional, and Al-Owain, Mohammed, additional

Published
2016
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30. Mutations in NALCN Cause an Autosomal-Recessive Syndrome with Severe Hypotonia, Speech Impairment, and Cognitive Delay

Author

Al-Sayed, Moeenaldeen D., primary, Al-Zaidan, Hamad, additional, Albakheet, AlBandary, additional, Hakami, Hana, additional, Kenana, Rosan, additional, Al-Yafee, Yusra, additional, Al-Dosary, Mazhor, additional, Qari, Alya, additional, Al-Sheddi, Tarfa, additional, Al-Muheiza, Muhammed, additional, Al-Qubbaj, Wafa, additional, Lakmache, Yamina, additional, Al-Hindi, Hindi, additional, Ghaziuddin, Muhammad, additional, Colak, Dilek, additional, and Kaya, Namik, additional

Published
2013
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31. KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability.

Author

Kaya, Namik, Alsagob, Maysoon, D'Adamo, Maria Cristina, Al-Bakheet, Albandary, Hasan, Sonia, Muccioli, Maria, Almutairi, Faten B., Almass, Rawan, Aldosary, Mazhor, Monies, Dorota, Mustafa, Osama M., Alyounes, Banan, Kenana, Rosan, Al-Zahrani, Jawaher, Naim, Eva, Binhumaid, Faisal S., Qari, Alya, Almutairi, Fatema, Meyer, Brian, and Plageman, Timothy F.

Abstract

Background Voltage-gated potassium channels are highly diverse proteins representing the most complex class of voltage-gated ion channels from structural and functional perspectives. Deficiency of these channels usually results in various human disorders. Objectives To describe a novel autosomal recessive syndrome associated with KCNA4 deficiency leading to congenital cataract, abnormal striatum, intellectual disability and attention deficit hyperactivity disorder. Methods We used SNP arrays, linkage analyses, autozygosity mapping, whole-exome sequencing, RT-PCR and two-electrode voltage-clamp recording. Results We identified a missense variant (p.Arg89Gln) in KCNA4 in four patients from a consanguineous family manifesting a novel syndrome of congenital cataract, abnormal striatum, intellectual disability and attention deficit hyperactivity disorder. The variant was fully segregated with the disease and absent in 747 ethnically matched exomes. Xenopus oocytes were injected with human Kv1.4 wild-type mRNA, R89Q and WT/R89Q channels. The wild type had mean current amplitude that was significantly greater than those recorded from the cells expressing the same amount of mutant mRNA. Co-expression of the wild type and mutant mRNAs resulted in mean current amplitude that was significantly different from that of the wild type. RTPCR indicated that KCNA4 is present in mouse brain, lens and retina. KCNA4 interacts with several molecules including synaptotagmin I, DLG1 and DLG2. The channel co-localises with cholinergic amacrine and rod bipolar cells in rats and is widely distributed in the central nervous system. Based on previous studies, the channel is highly expressed in outer retina, rod inner segments, hippocampus and concentrated in axonal membranes. Conclusion KCNA4 (Kv1.4) is implicated in a novel syndrome characterised by striatal thinning, congenital cataract and attention deficit hyperactivity disorder. Our study highlights potassium channels' role in ocular and neuronal genetics. [ABSTRACT FROM AUTHOR]

Published
2016
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32. Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin

Author

Imtiaz, Faiqa, primary, Rashed, Mohamed S., additional, Al-Mubarak, Bashayer, additional, Allam, Rabab, additional, El-Karaksy, Hanaa, additional, Al-Hassnan, Zuhair, additional, Al-Owain, Mohammed, additional, Al-Zaidan, Hamad, additional, Rahbeeni, Zuhair, additional, Qari, Alya, additional, Meyer, Brian F., additional, and Al-Sayed, Moeen, additional

Published
2011
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33. TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.

Author

Almousa H, Lewis SA, Bakhtiari S, Nordlie SH, Pagnozzi A, Magee H, Efthymiou S, Heim JA, Cornejo P, Zaki MS, Anwar N, Maqbool S, Rahman F, Neilson DE, Vemuri A, Jin SC, Yang XR, Heidari A, van Gassen K, Trimouille A, Thauvin-Robinet C, Liu J, Bruel AL, Tomoum H, Shata MO, Hashem MO, Toosi MB, Karimiani EG, Yeşil G, Lingappa L, Baruah D, Ebrahimzadeh F, Van-Gils J, Faivre L, Zamani M, Galehdari H, Sadeghian S, Shariati G, Mohammad R, van der Smagt J, Qari A, Vincent JB, Innes AM, Dursun A, Özgül RK, Akar HT, Bilguvar K, Mignot C, Keren B, Raveli C, Burglen L, Afenjar A, Kaat LD, van Slegtenhorst M, Alkuraya F, Houlden H, Padilla-Lopez S, Maroofian R, Sacher M, and Kruer MC

Subjects
Animals, Humans, Vesicular Transport Proteins genetics, Microcephaly genetics, Intellectual Disability genetics, Dystonia, Neurodevelopmental Disorders genetics, Epilepsy genetics
Abstract

Highly conserved transport protein particle (TRAPP) complexes regulate subcellular trafficking pathways. Accurate protein trafficking has been increasingly recognized to be critically important for normal development, particularly in the nervous system. Variants in most TRAPP complex subunits have been found to lead to neurodevelopmental disorders with diverse but overlapping phenotypes. We expand on limited prior reports on TRAPPC6B with detailed clinical and neuroradiologic assessments, and studies on mechanisms of disease, and new types of variants. We describe 29 additional patients from 18 independent families with biallelic variants in TRAPPC6B. We identified seven homozygous nonsense (n = 12 patients) and eight canonical splice-site variants (n = 17 patients). In addition, we identified one patient with compound heterozygous splice-site/missense variants with a milder phenotype and one patient with homozygous missense variants. Patients displayed non-progressive microcephaly, global developmental delay/intellectual disability, epilepsy and absent expressive language. Movement disorders including stereotypies, spasticity and dystonia were also observed. Brain imaging revealed reductions in cortex, cerebellum and corpus callosum size with frequent white matter hyperintensity. Volumetric measurements indicated globally diminished volume rather than specific regional losses. We identified a reduced rate of trafficking into the Golgi apparatus and Golgi fragmentation in patient-derived fibroblasts that was rescued by wild-type TRAPPC6B. Molecular studies revealed a weakened interaction between mutant TRAPPC6B (c.454C>T, p.Q152*) and its TRAPP binding partner TRAPPC3. Patient-derived fibroblasts from the TRAPPC6B (c.454C>T, p.Q152*) variant displayed reduced levels of TRAPPC6B as well as other TRAPP II complex-specific members (TRAPPC9 and TRAPPC10). Interestingly, the levels of the TRAPPC6B homologue TRAPPC6A were found to be elevated. Moreover, co-immunoprecipitation experiments showed that TRAPPC6A co-precipitates equally with TRAPP II and TRAPP III, while TRAPPC6B co-precipitates significantly more with TRAPP II, suggesting enrichment of the protein in the TRAPP II complex. This implies that variants in TRAPPC6B may preferentially affect TRAPP II functions compared to TRAPP III functions. Finally, we assessed phenotypes in a Drosophila TRAPPC6B-deficiency model. Neuronal TRAPPC6B knockdown impaired locomotion and led to wing posture defects, supporting a role for TRAPPC6B in neuromotor function. Our findings confirm the association of damaging biallelic TRAPPC6B variants with microcephaly, intellectual disability, language impairments, and epilepsy. A subset of patients also exhibited dystonia and/or spasticity with impaired ambulation. These features overlap with disorders arising from pathogenic variants in other TRAPP subunits, particularly components of the TRAPP II complex. These findings suggest that TRAPPC6B is essential for brain development and function, and TRAPP II complex activity may be particularly relevant for mediating this function., (© The Author(s) 2023. Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

Published
2024
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34. The many faces of peroxisomal disorders: Lessons from a large Arab cohort.

Author

Alshenaifi J, Ewida N, Anazi S, Shamseldin HE, Patel N, Maddirevula S, Al-Sheddi T, Alomar R, Alobeid E, Ibrahim N, Hashem M, Abdulwahab F, Jacob M, Alhashem A, Alzaidan HI, Seidahmed MZ, Alhashemi N, Rawashdeh R, Eyaid W, Al-Hassnan ZN, Rahbeeni Z, Alswaid A, Hadid A, Qari A, Mohammed DA, El Khashab HY, Alfadhel M, Abanemai M, Sunbul R, Al Tala S, Alkhalifi S, Alkharfi T, Abouelhoda M, Monies D, Al Tassan N, AlDubayan SH, Kurdi W, Al-Owain M, Dasouki MJ, Kentab AY, Atyani S, Makhseed N, Faqeih E, Shaheen R, and Alkuraya FS

Subjects
Biomarkers, Brain abnormalities, Brain diagnostic imaging, Cohort Studies, Consanguinity, Cost of Illness, Disease Management, Disease Susceptibility, Facies, Female, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Magnetic Resonance Imaging, Male, Mutation, Pedigree, Peroxisomal Disorders diagnosis, Peroxisomal Disorders therapy, Phenotype, Population Surveillance, Prognosis, Arabs genetics, Peroxisomal Disorders epidemiology, Peroxisomal Disorders etiology
Abstract

Defects in the peroxisomes biogenesis and/or function result in peroxisomal disorders. In this study, we describe the largest Arab cohort to date (72 families) of clinically, biochemically and molecularly characterized patients with peroxisomal disorders. At the molecular level, we identified 43 disease-causing variants, half of which are novel. The founder nature of many of the variants allowed us to calculate the minimum disease burden for these disorders in our population ~1:30 000, which is much higher than previous estimates in other populations. Clinically, we found an interesting trend toward genotype/phenotype correlation in terms of long-term survival. Nearly half (40/75) of our peroxisomal disorders patients had documented survival beyond 1 year of age. Most unusual among the long-term survivors was a multiplex family in which the affected members presented as adults with non-specific intellectual disability and epilepsy. Other unusual presentations included the very recently described peroxisomal fatty acyl-CoA reductase 1 disorder as well as CRD, spastic paraparesis, white matter (CRSPW) syndrome. We conclude that peroxisomal disorders are highly heterogeneous in their clinical presentation. Our data also confirm the demonstration that milder forms of Zellweger spectrum disorders cannot be ruled out by the "gold standard" very long chain fatty acids assay, which highlights the value of a genomics-first approach in these cases., (© 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Published
2019
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