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3 results on '"Ubeyratna, Nishanka"'

1. Biallelic DAW1variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities

Author

Leslie, Joseph S., Hjeij, Rim, Vivante, Asaf, Bearce, Elizabeth A., Dyer, Laura, Wang, Jiaolong, Rawlins, Lettie, Kennedy, Joanna, Ubeyratna, Nishanka, Fasham, James, Irons, Zoe H., Craig, Samuel B., Koenig, Julia, George, Sebastian, Pode-Shakked, Ben, Bolkier, Yoav, Barel, Ortal, Mane, Shrikant, Frederiksen, Kathrine K., Wenger, Olivia, Scott, Ethan, Cross, Harold E., Lorentzen, Esben, Norris, Dominic P., Anikster, Yair, Omran, Heymut, Grimes, Daniel T., Crosby, Andrew H., and Baple, Emma L.

Abstract

The clinical spectrum of motile ciliopathies includes laterality defects, hydrocephalus, and infertility as well as primary ciliary dyskinesia when impaired mucociliary clearance results in otosinopulmonary disease. Importantly, approximately 30% of patients with primary ciliary dyskinesia lack a genetic diagnosis.

Published
2022
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2. Consolidating biallelic SDHDvariants as a cause of mitochondrial complex II deficiency

Author

Lin, Siying, Fasham, James, Al-Hijawi, Fida’, Qutob, Nouar, Gunning, Adam, Leslie, Joseph S., McGavin, Lucy, Ubeyratna, Nishanka, Baker, Wisam, Zeid, Ramez, Turnpenny, Peter D., Crosby, Andrew H., Baple, Emma L., and Khalaf-Nazzal, Reham

Abstract

Isolated mitochondrial complex II deficiency is a rare cause of mitochondrial respiratory chain disease. To date biallelic variants in three genes encoding mitochondrial complex II molecular components have been unequivocally associated with mitochondrial disease (SDHA/SDHB/SDHAF1). Additionally, variants in one further complex II component (SDHD) have been identified as a candidate cause of isolated mitochondrial complex II deficiency in just two unrelated affected individuals with clinical features consistent with mitochondrial disease, including progressive encephalomyopathy and lethal infantile cardiomyopathy. We present clinical and genomic investigations in four individuals from an extended Palestinian family with clinical features consistent with an autosomal recessive mitochondrial complex II deficiency, in which our genomic studies identified a homozygous NM_003002.3:c.[205 G > A];[205 G > A];p.[(Glu69Lys)];[(Glu69Lys)] SDHDvariant as the likely cause. Reviewing previously published cases, these findings consolidate disruption of SDHD function as a cause of mitochondrial complex II deficiency and further define the phenotypic spectrum associated with SDHDgene variants.

Published
2021
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3. Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder

Author

Rawlins, Lettie E., Maroofian, Reza, Cannon, Stuart J., Daana, Muhannad, Zamani, Mina, Ghani, Shamsul, Leslie, Joseph S., Ubeyratna, Nishanka, Khan, Nasar, Khan, Hamid, Scardamaglia, Annarita, Cloarec, Robin, Khan, Shujaat Ali, Umair, Muhammad, Sadeghian, Saeid, Galehdari, Hamid, Al-Maawali, Almundher, Al-Kindi, Adila, Azizimalamiri, Reza, Shariati, Gholamreza, Ahmad, Faraz, Al-Futaisi, Amna, Rodriguez Cruz, Pedro M., Salazar-Villacorta, Ainara, Ndiaye, Moustapha, Diop, Amadou G., Sedaghat, Alireza, Saberi, Alihossein, Hamid, Mohammad, Zaki, Maha S., Vona, Barbara, Owrang, Daniel, Alhashem, Abdullah M., Obeid, Makram, Khan, Amjad, Beydoun, Ahmad, Najjar, Marwan, Tajsharghi, Homa, Zifarelli, Giovanni, Bauer, Peter, Hakami, Wejdan S., Al Hashem, Amal M., Boustany, Rose-Mary N., Burglen, Lydie, Alavi, Shahryar, Gunning, Adam C., Owens, Martina, Karimiani, Ehsan G., Gleeson, Joseph G., Milh, Mathieu, Salah, Somaya, Khan, Jahangir, Haucke, Volker, Wright, Caroline F., McGavin, Lucy, Elpeleg, Orly, Shabbir, Muhammad I., Houlden, Henry, Ebner, Michael, Baple, Emma L., and Crosby, Andrew H.

Abstract

Biallelic INPP4Avariants have recently been associated with severe neurodevelopmental disease in single-case reports. Here, we expand and elucidate the clinical-genetic spectrum and provide a pathomechanistic explanation for genotype-phenotype correlations.

Published
2024
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