Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13

Acharya, Anushree; Raza, Syed M.; Anwar, Muhammad Zeeshan; Bharadwaj, Thashi; Liaqat, Khurram; Khokhar, Muhammad Akram Shahzad; Everard, Jenna L; Nasır, Abdul; Nickerson, Deborah A.; Bamshad, Michael J.; Ansar, Muhammad; Schrauwen, Isabelle; Ahmad, Wasim; Leal, Suzanne M.

doi:10.1038/s10038-021-00922-0

Cited by 5 publications

(3 citation statements)

References 49 publications

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“…The latter is present in most published cases of WS1 and WS2, except in the case of Mozzillo et al [ 10 , 15 ]. This syndrome was caused by a homozygous missense mutation on CDK13, a cyclin-dependent kinase-regulating gene transcription, alternative splicing of RNA and C-terminal domain [ 16 ].…”

Section: Introductionmentioning

confidence: 99%

Wolfram Syndrome Type 2: A Systematic Review of a Not Easily Identifiable Clinical Spectrum

Rosanio

Candia

Occhiati

et al. 2022

IJERPH

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Background: Wolfram syndrome (WS) is a rare autosomal recessive disorder that is characterized by the presence of diabetes mellitus, optic atrophy and hearing loss, all of which are crucial elements for the diagnosis. WS is variably associated with diabetes insipidus, neurological disorders, urinary tract anomalies, endocrine dysfunctions and many other systemic manifestations. Since Wolfram and Wagener first described WS in 1938, new phenotypic/genotypic variants of the syndrome have been observed and the clinical picture has been significantly enriched. To date, two main subtypes of WS that associated with two different mutations are known: WS type 1 (WS1), caused by the mutation of the wolframine gene (WS1; 606201), and WS type 2 (WS2), caused by the mutation of the CISD2 gene (WS2; 604928). Methods: A systematic review of the literature was describe the phenotypic characteristics of WS2 in order to highlight the key elements that differentiate it from the classic form. Conclusion: WS2 is the rarest and most recently identified subtype of WS; its clinical picture is partially overlapping with that of WS1, from which it traditionally differs by the absence of diabetes insipidus and the presence of greater bleeding tendency and peptic ulcers.

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Section: Introductionmentioning

confidence: 99%

Wolfram Syndrome Type 2: A Systematic Review of a Not Easily Identifiable Clinical Spectrum

Rosanio

Candia

Occhiati

et al. 2022

IJERPH

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“…Cyanotic CHD was described in another cohort from North India [ 17 ]. Finally, Wolfram-like syndrome due to the CDK13 variant segregating in a Pakistani family was associated with a bicuspid aortic valve and cardiac arrest in one case [ 18 ].…”

Section: Discussionmentioning

confidence: 99%

Cardiac Wolframinopathies: A Case Report of Myocarditis and a Literature Review of Cardiac Involvement in Wolfram Syndrome 1

Villatore,

Frontino,

Cascavilla

et al. 2024

JCM

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Purpose: Myocarditis is frequently a sporadic disease, but may also occur in the context of genetic disorders which may increase susceptibility to cardiac inflammation. Cardiac involvement in Wolfram syndrome type 1 (WS1) has been scarcely characterized. To our knowledge, no cases of virus-negative myocarditis have been reported in the WS1 pediatric population. Methods: We report the description of a pediatric case of acute myocarditis in the context of WS1, followed by a literature review of cardiovascular involvement associated with wolframin variants, and discuss potential pathophysiological mechanisms and therapeutic options. Results: A young patient with WS1, treated with insulin and liraglutide, was admitted for acute chest pain. Cardiac magnetic resonance and endomyocardial biopsy were performed to confirm the clinical suspicion of myocarditis. While congenital heart diseases and arrhythmias have been described previously in patients with WS1, this is the first description of virus-negative myocarditis. Conclusions: Myocarditis may represent a possible manifestation of cardiovascular involvement in WS1. Cardiovascular screening may be considered in patients with WS1.

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“…Frontometaphyseal dysplasia 2 is caused due to variants affecting MAP3K7, and conductive or sensorineural deafness is accompanied by ear malformations [14]. For a vast majority of protein serine/ threonine kinases, such as CDC42BPB, CDK8, CDK9, CDK10, CDK13, the association of hearing loss due to variants of the genes in the corresponding syndromes is based on the presence of the auditory phenotype in one or only a few individuals [15][16][17][18][19]. Therefore, some of these genetic variants links to human auditory malfunction may prove to be coincidental.…”

Section: Protein Serine/threonine Kinasesmentioning

confidence: 99%

Nonreceptor Protein Kinases and Phosphatases Necessary for Auditory Function

Naz¹

2022

Auditory System - Function and Disorders

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Phosphorylation is one of the most common posttranslational protein modifications. It has multiple roles in cell signaling during development as well as for maintenance of diverse functions of an organism. Protein kinases and phosphatases control phosphorylation and play critical roles in cellular processes from cell birth to cell death. Discovery of hearing-loss-associated gene variants in humans and the study of animal models have identified a crucial role of a plethora of protein phosphatases and kinases in the inner ear. In this review, those nonreceptor kinases or phosphatases are discussed, which are encoded by genes implicated in causing inherited hearing loss in humans or in mouse mutants. These studies have served to highlight the essential roles of protein kinases and phosphatases pathways to the function of the auditory system. However, the inner-ear-specific substrates for most of these enzymes remain to be discovered, as do the mechanisms of disease due to the variants in the genes that encode these proteins.

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Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13

Cited by 5 publications

References 49 publications

Wolfram Syndrome Type 2: A Systematic Review of a Not Easily Identifiable Clinical Spectrum

Wolfram Syndrome Type 2: A Systematic Review of a Not Easily Identifiable Clinical Spectrum

Cardiac Wolframinopathies: A Case Report of Myocarditis and a Literature Review of Cardiac Involvement in Wolfram Syndrome 1

Nonreceptor Protein Kinases and Phosphatases Necessary for Auditory Function

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