We present two new cases of Warsaw Breakage Syndrome (WABS), an autosomal recessive cohesinopathy, in sisters aged 13 and 11 years who both had compound heterozygous mutations in DDX11. [ncbi.nlm.nih.gov]

Treatment [ edit ] There is no known curative treatment for this condition presently. Management is supportive. [en.wikipedia.org]

Abstract We present two new cases of Warsaw Breakage Syndrome (WABS), an autosomal recessive cohesinopathy, in sisters aged 13 and 11 years who both had compound heterozygous mutations in DDX11. [unboundmedicine.com]

The few patients described so far typically present with severe growth retardation, microcephaly, intellectual disability and deafness. [oxfordmedicine.com]

Treatment [ edit ] There is no known curative treatment for this condition presently. Management is supportive. [en.wikipedia.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

The prognosis is poor due to the high frequency of malignancies. History and etymology The condition was first described in the Dutch city of Nijmegen. [radiopaedia.org]

Higher hyperdiploidy (51-65 chromosomes) is usually associated with low-risk features and is reported to have a good prognosis (Moorman et al., 2003; Harrison et al., 2004). [funpecrp.com.br]

A ventriculoperitoneal shunt can be placed in patients with hydrocephaly, and surgical intervention of congenital deformities is also attempted. [10] Prognosis [ edit ] A review from 2000 stated that life expectancy was reduced because of a tendency to [en.wikipedia.org]

Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. [genecards.org]

IC is frequently misdiagnosed due to complex presentation, and it is also complicated to treat, as the etiology remains unknown and treatment is limited to symptom management. [tecbridgepa.org]

It is well known, that dental plaque is important etiologic factor of developing periodontal disease and dental caries. [czytelniamedyczna.pl]

Epidemiological data evidence that the NBN gene can be considered a susceptibility factor for cancer development, as demonstrated by the fact that almost 40% of NBS patients have developed a malignancy before the age of 21. [eurekaselect.com]

EPIDEMIOLOGY NBS is a rare disorder. The exact incidence is unknown. Most reported NBS patients have an ethnic origin from Eastern Europe, notably Poland, the Czech Republic, and Ukraine [ 4,5 ]. [uptodate.com]

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Chromosomal instability syndromes are autosomal recessive disorders characterized by defects in DNA repair mechanisms or genetic [mayomedicallaboratories.com]

One main conceptual step forward was made with the discovery of NBS1 and the understanding of its critical pathophysiological role in Nijmegen breakage syndrome. Major efforts were carried out to define the role in DNA repair of this complex. [cancerindex.org]

H00001663-B01P Slide 7: Warsaw breakage deficient in DDX11/ChlR1 Cellular phenotype is caused by DDX11 deficiency DDX11/ChlR1 : DDX11/ChlR1 Chl1 in yeast: DEAH family of DNA helicases Required for sister chromatid cohesion Role in replication fork stability Prevents [authorstream.com]

Chem. (1997) [ Pubmed ] Prevention of neuronal cell death by neural adhesion molecules L1 and CHL1. Chen, S., Mantei, N., Dong, L., Schachner, M. J. [wikigenes.org]

Required for maintaining the chromosome segregation and is essential for embryonic development and the prevention of aneuploidy. May function during either S, G2, or M phase of the cell cycle. Binds to both single- and double-stranded DNA. [abcam.com]

TSL:3 DDX11-228 ENST00000545115.5 545 76aa ENSP00000443750 - H0YGL4 - 5' truncation in transcript evidence prevents annotation of the start of the CDS. [ensembl.org]