Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Jin, Sheng; Lewis, Sara A.; Bakhtiari, Somayeh; Zeng, Xue; Shetty, Sheetal; Nordlie, Sandra M.; Elie, Aureliane; Corbett, Mark; Norton, Bethany Y.; Eyk, Clare L. van; Haider, Shozeb; Guida, Brandon S.; Magee, Helen; Liu, James H.; Pastore, Stephen; Vincent, John B.; Brunstrom-Hernandez, Janice E.; Papavasileiou, Antigone; Fahey, Michael; Berry, Jesia G.; Harper, Kelly; Zhou, Chongchen; Zhang, Junhui; Li, Boyang; Zhao, Hongyu; Heim, Jennifer; Webber, Dani L.; Frank, Mahalia S. B.; Xia, Lei; Xu, Yiran; Zhu, Dengna; Sheth, Amar H.; Knight, James; Castaldi, Christopher; Tikhonova, Irina; López-Giráldez, Francesc; Keren, Boris; Whalen, Sandra; Buratti, Julien; Doummar, Diane; Cho, Megan; Retterer, Kyle; Millan, Francisca; Wang, Yangong; Waugh, Jeff L.; Rodan, Lance H.; Cohen, Julie S.; Fatemi, Ali; Lin, Angela E.; Phillips, J. P.; Feyma, Timothy; MacLennan, Suzanna C; Vaughan, Spencer; Crompton, Kylie Elizabeth; Reid, Susan; Reddihough, Dinah; Shang, Qing; Gao, Chao; Novak, Iona; Badawi, Nadia; Wilson, Yana A.; McIntyre, Sarah; Mane, Shrikant; Wang, Xiaoyang; Amor, David J.; Zarnescu, Daniela C.; Lu, Qiongshi; Xing, Qinghe; Zhu, Changlian; Bilgüvar, Kaya; Padilla-López, Sergio; Lifton, Richard P.; Gécz, Jozef; MacLennan, Alastair H.; Kruer, Michael C.

doi:10.1038/s41588-021-00780-8

Cited by 5 publications

(3 citation statements)

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“…Since our study design is based on mother-father-child trios, in order to enroll the family, both biological parents are invited to participate given the high rate of de novo mutations in CP. 33 This necessitated that the individual with CP, their biological mother, and their biological father each individually complete an assent/consent (as applicable). Under Arizona state law, legally authorized representatives are required to provide consent for those under the age of 18 and express permission is required for children 8-17 with the intellectual capacity to provide assent (as indicated by their legally authorized representative).…”

Section: Methodsmentioning

confidence: 99%

Development and validation of a stakeholder-driven, self-contained electronic informed consent platform for trio-based genomic research studies

Norton,

Liu,

Lewis

et al. 2024

Preprint

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Increasingly long and complex informed consents have yielded studies demonstrating comparatively low participant comprehension and satisfaction with traditional face-to-face approaches. In parallel, interest in electronic consents for clinical and research genomics has steadily increased, yet limited data are available for trio-based genomic discovery studies. We describe the design, development, implementation, and validation of an electronic iConsent application for trio-based genomic research deployed to support genomic studies of cerebral palsy. iConsent development incorporated stakeholder perspectives including researchers, patient advocates, institutional review board members, and genomic data-sharing considerations. The iConsent platform integrated principles derived from prior electronic consenting research and elements of multimedia learning theory. Participant comprehension was assessed in an interactive teachback format. The iConsent application achieved nine of ten proposed desiderata for effective patient-focused electronic consenting for genomic research. Overall, participants demonstrated high comprehension and retention of key human subjects considerations. Enrollees reported high levels of satisfaction with the iConsent, and we found that participant comprehension, iConsent clarity, privacy protections, and study goal explanations were associated with overall satisfaction. Although opportunities exist to optimize iConsent, we show that such an approach is feasible, can satisfy multiple stakeholder requirements, and can realize high participant satisfaction and comprehension while increasing study reach.

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Section: Methodsmentioning

confidence: 99%

Development and validation of a stakeholder-driven, self-contained electronic informed consent platform for trio-based genomic research studies

Norton,

Liu,

Lewis

et al. 2024

Preprint

Self Cite

View full text Add to dashboard Cite

show abstract

“…Вышесказанное определяет многолетний интерес к изучению генетических аспектов патогенеза и этиологии данной патологии. Накопленные мировые данные свидетельствуют о высокой частоте генетической природы ЦП (до 10-30 % среди пациентов с ЦП) [10]. В пользу генетической детерминированности ЦП могут свидетельствовать наличие схожих симптомов в семье пробанда, отсутствие явных перинатальных факторов риска, наличие малых аномалий развития, неврологический дефицит.…”

Section: Introductionunclassified

EBF3-associated hypotonia, ataxia and delayed development syndrome – the mask cerebral palsy (case report)

Afandieva,

Gaynetdinova,

2024

Neuromuscular Diseases

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Pathogenetic nucleotide variants at many genetic loci can cause conditions like cerebral palsy. Establishing the etiologic diagnosis is clinically important for optimal disease management and treatment.The presented family case demonstrates a clinical polymorphism associated with variants in the EBF3 gene that impaired transcription regulation. The described variant c.703C>T (p.His235Tyr) in the EBF3 leads to severe motor and intellectual disability mimicking cerebral palsy.Timely detection of monogenic diseases hiding under the mask of cerebral palsy will help to establish a timely diagnosis and conduct medical and genetic counseling to prevent recurrent cases in the family.

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“…10 It has long been thought that CP is caused by environmental triggers, recent findings identified rare mutations in single genes that may be the cause of this disorder. 11 However, despite all the medical care done in these areas, CP incidence has remained unchanged. 12 Surveillance of Cerebral Palsy in Europe (SCPE), aiming to standardize CP classification has suggested a simple classification for patients, dividing them into three chief groups: ataxic, dyskinetic (choreoathetosis & dystonia), spastic (unilateral or bilateral spastic).…”

Section: Introductionmentioning

confidence: 99%

BDNF as a potential predictive biomarker for patients with pediatric cerebral palsy

et al. 2022

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Background: Cerebral palsy (CP) is the most common motor disability in children, which is instigated by damage to the developing brain that affects the ability to control the muscles. The main types of CP are spastic CP, dyskinesia CP and mixed CP. The aim of this work was to estimate the concentrations of complete blood count (CBC), erythrocytic sedimentation rate (ESR), C-reactive protein (CRP), brain-derived neurotrophic factor (BDNF), and tumor necrosis factor-α (TNF-α) in children with CP compared to the control group. Methods: A total of 75 Egyptian children were enrolled in this study, 45 had CP and 30 were controls. CBC, ESR, CRP, BDNF, and TNF-α were assessed. Results: The ESR, CRP and TNF-α levels showed statistically significant increases in cases compared with controls. While the neutrophil/lymphocyte ratio and the BDNF levels were significantly lower in CP compared with the controls. When comparing the different groups of CP with each other; there were no significant differences. Regarding the correlation of BDNF and different studied parameters, our study showed a positive correlation between BDNF and TNF levels only within the group with spastic CP. Conclusions: BDNF may be considered as a biomarker or treatment target for CP to avoid further complications as still there is insufficient progress in the prediction, early diagnosis, treatment, and prevention of CP. Furthermore, searching for novel strategies to increase BDNF levels may open a new opportunity for the treatment of CP.

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Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Cited by 5 publications

References 0 publications

Development and validation of a stakeholder-driven, self-contained electronic informed consent platform for trio-based genomic research studies

Development and validation of a stakeholder-driven, self-contained electronic informed consent platform for trio-based genomic research studies

EBF3-associated hypotonia, ataxia and delayed development syndrome – the mask cerebral palsy (case report)

BDNF as a potential predictive biomarker for patients with pediatric cerebral palsy

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