Citations 3
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity
Ernst, Michelle, Baugh, Evan H., Thomas‐Wilson, Amanda , Bier, Louise , Lippa, Natalie , Stong, Nicholas , Mulhern, Maureen , Kushary, Sulagna , Akman, Cigdem I. , Heinzen, Erin L. , Yeh, Raymond, He, Weimin , Hanchard, Neil A. , Burrage, Lindsay C. , Leduc, Magalie S. , Chong, Josephine S. C., Bend, Renee, Lyons, Michael J. , Lee, Jennifer A. , Suwannarat, Pim, Brilstra, Eva H. , Simon, Marleen, Binsbergen, Ellen van , Groepper, Daniel , Fleischer, Julie , Keren, Boris , Mignot, Cyril , Mathieu, Sophie , Mancini, Grazia M.S. , Madan‐Khetarpal, Suneeta, Infante, Elena , Bluvstein, Judith , Seeley, Andrea , Bachman, Kristine , Klee, Eric W. , Schultz‐Rogers, Laura , Hasadsri, Linda , Barnett, Sarah , Ellingson, Marissa S. , Ferber, Matthew J. , Ramsey, Keri , Rauch, Anita , Joset, Pascal , Steindl, Katharina , Sheehan, Theodore , Vasquez, Alejandra , Ruivenkamp, Claudia , White, Susan M. , Monaghan, Kristin G. , Goldstein, David B. , Sands, Tristan T. , Aggarwal, Vimla S. , Ernst, Michelle E , Schultz-Rogers, Laura E, Sheehan, Theodore , Poduri, Annapurna , Sands, Tristan T , Rauch, Anita , Burrage, Lindsay C , Stong, Nicholas , Yeh, Raymond, Koopmans, Marion , Nava, Caroline , Narayanan, Vinodh , Pais, Lynn
Epilepsia | May 27, 2021 | Volume: 62 | Issue: 7 | Pages: No page available
AbstractCSNK2B has recently been implicated as a disease gene for neurodevelopmental disability (NDD) and epilepsy. Information about developmental outcomes has been limited by the young age and short follow‐up for many of the previously reported cases, and further delineation of the spectrum of associated phenotypes is needed. We present 25 new patients with variants in CSNK2B and refine the associated NDD and epilepsy phenotypes. CSNK2B variants were identified by research or clinical exome sequencing, and investigators from different centers were connected via GeneMatcher. Most individuals had developmental delay and generalized epilepsy with onset in the first 2 years. However, we found a broad spectrum of phenotypic severity, ranging from early normal development with pharmacoresponsive seizures to profound intellectual disability with intractable epilepsy and recurrent refractory status epilepticus. These findings suggest that CSNK2B should be considered in the diagnostic evaluation of patients with a broad range of NDD with treatable or intractable seizures.
Biallelic variants in CTU2 cause DREAM‐PL syndrome and impair thiolation of tRNA wobble U34
Shaheen, Ranad , Mark, Paul R. , Prevost, Christopher T. , Al‐Kindi, Adila, Alhag, Ahmad, Estwani, Fatima, Al‐Sheddi, Tarfa , Alobeid, Eman, Ewida, Nour, Ibrahim, Niema, Hashem, Mais, Abdulwahab, Firdous, Bryant, Emily , Spinelli, Egidio, Barnett, Sarah , Kearney, Hutton M. , Accogli, Andrea , Scala, Marcello , Capra, Valeria , Fu, Dragony , Alkuraya, Fowzan S. , Barnett, Sarah S, Fu, Dragony , Alkuraya, Fowzan S , Alenazi, Mona M. , Hashem, Mais, Millichap, J Gordon , Nigro, Vincenzo , Scala, Marcello
Human Mutation | July 13, 2019 | Volume: 40 | Issue: 11 | Pages: 2108-2120
Diagnosis of Attenuated Mucopolysaccharidosis VI: Clinical, Biochemical, and Genetic Pitfalls
Conboy, Erin , Jones, Amie, Barnett, Sarah , Klee, Eric W. , Lanpher, Brendan C. , Barnett, Sarah S, Vairo, Filippo Pinto e , Souza, Carolina Fischinger Moura de
Pediatrics | November 23, 2018 | Volume: 142 | Issue: 6 | Pages: No page available
Mucopolysaccharidosis type VI (MPS VI) is a clinically heterogeneous lysosomal disease, which can be divided into 2 main categories on the basis of age of onset and severity of symptoms. The diagnosis of the attenuated form is often delayed given subtle facial features rather than the typical coarse facial features of the classic form. Here, we discuss the difficulties in establishing the diagnosis of MPS VI on the basis of the report of 4 individuals. The most common signs and symptoms in our series were bone abnormalities and hip pain as initial manifestations and cardiac changes detected after follow-up studies. On the basis of our cohort and others worldwide, awareness of attenuated forms of MPS VI should be increased particularly among general practitioners, pediatricians, rheumatologists, orthopedists, ophthalmologists, and cardiologists. Moreover, these health care providers should be aware of the technical aspects involved in the molecular and biochemical diagnosis process so that they are aware how diagnostic errors may occur.