Warburton Anyane Yeboa Syndrome

Last update 08 May 2025

Basic Info

Synonyms

Mosaic variegated aneuplody microcephaly syndrome, Mosaic variegated aneuploidy syndrome, Mosaic variegated aneuploidy syndrome (disorder)

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Introduction

Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

100 Clinical Results associated with Warburton Anyane Yeboa Syndrome

100 Translational Medicine associated with Warburton Anyane Yeboa Syndrome

0 Patents (Medical) associated with Warburton Anyane Yeboa Syndrome

101

Literatures (Medical) associated with Warburton Anyane Yeboa Syndrome

01 Dec 2024·Nature Reviews Genetics

Mosaic variegated aneuploidy in development, ageing and cancer

Review

Author: Villarroya-Beltri, Carolina ; Malumbres, Marcos

Mosaic variegated aneuploidy (MVA) is a rare condition in which abnormal chromosome counts (that is, aneuploidies), affecting different chromosomes in each cell (making it variegated) are found only in a certain number of cells (making it mosaic). MVA is characterized by various developmental defects and, despite its rarity, presents a unique clinical scenario to understand the consequences of chromosomal instability and copy number variation in humans. Research from patients with MVA, genetically engineered mouse models and functional cellular studies have found the genetic causes to be mutations in components of the spindle-assembly checkpoint as well as in related proteins involved in centrosome dynamics during mitosis. MVA is accompanied by tumour susceptibility (depending on the genetic basis) as well as cellular and systemic stress, including chronic immune response and the associated clinical implications.

01 Sep 2024·International Journal of Legal Medicine

Sudden unexpected postnatal collapse and BUB1B mutation: first forensic case report

Article

Author: Pignotti, Maria Serenella ; Greco, Pantaleo ; Nannola, Chiara ; Sessa, Francesco ; Esposito, Massimiliano ; Salerno, Monica

AbstractSudden unexpected postnatal collapse (SUPC) is a sudden collapse of the clinical conditions of a full-term or near-term newborn, within the first 7 days of life, that requires resuscitation with positive ventilation and who either dies, has hypoxic-ischemic encephalopathy, or requires intensive care. The incidence of SUPC is very low, and most often presents a negative prognosis. The BUB1B gene is a mitotic checkpoint of serine/threonine kinase B that encodes a protein crucial for maintaining the correct number of chromosomes during cell division. Mutations in the BUB1B gene are linked to mosaic variegated aneuploidy syndrome 1 (MVA1), a rare autosomal recessive disorder characterized by diffuse mosaic aneuploidies involving several chromosomes and tissues. This paper discusses a case of a newborn who had a spontaneous delivery. After 2 h and 10 min, the infant showed generalized hypotonia and cyanosis, and his doctors performed orotracheal intubation, cardiac massage, pharmacological hemodynamic therapy, mechanical ventilation, antibiotic therapy, and hypothermic treatment. The newborn was discharged after 5 months with the diagnosis of hypoxic-ischemic encephalopathy. Suspecting an SUPC, a complete genetic analysis was performed demonstrating a compound heterozygous mutations in the BUB1B gene. The newborn died at 6 months of life, 1 month after discharge. A complete autopsy was performed, determining that the cause of death was due to sepsis starting from a brocopneumonic process, with outcomes of hypoxic-ischemic encephalopathy (HIE). In this scenario, it is not possible to demonstrate the causal effect of this mutation, considering that it could play a causal or concausal role in the onset of SUPC. Further research based on multicenter studies, as well as on animal models, could be very useful to clarify the pathological effect of this mutation.

01 Sep 2024·Proteins: Structure, Function, and Bioinformatics

Crystal structure of human Cep57 C‐terminal domain reveals the presence of leucine zipper and the potential microtubule binding region

Article

Author: Dhakshinamoorthy, Dhayanitha Ranganathan ; Ramesh, Arvind V. ; Sukla, Sanskrita ; Seetharaman, Jayaraman ; Lew, Scott ; Su, Min

AbstractCep57, a vital centrosome‐associated protein, recruits essential regulatory enzymes for centriole duplication. Its dysfunction leads to anomalies, including reduced centrioles and mosaic‐variegated aneuploidy syndrome. Despite functional investigations, understanding structural aspects and their correlation with functions is partial till date. We present the structure of human Cep57 C‐terminal microtubule binding (MT‐BD) domain, revealing conserved motifs ensuring functional preservation across evolution. A leucine zipper, with an adjacent possible microtubule‐binding region, potentially forms a stabilizing scaffold for microtubule nucleation—accommodating pulling and tension from growing microtubules. This study highlights conserved structural features of Cep57 protein, compares them with other analogous proteins, and explores how protein function is maintained across diverse organisms.

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Warburton Anyane Yeboa Syndrome

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