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Andersen-Tawil syndrome (ATS) - case report and literature review

100%
Olszewska K., Blaszczak J., Mielnik-Blaszczak M.
Journal of Pre-Clinical and Clinical Research
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2014
|
tom 08
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nr 2
Andersen-Tawil Syndrome (ATS) is a rare genetic disorder inherited in an autosomal dominant pattern caused by mutations in the KCNJ2 gene encoding Kir2.1 protein forming potassium ion channel, leading to disruption of cardiac and skeletal muscle repolarisation. Clinical symptoms include periodic paralysis, ventricular arrhythmia associated with QT prolongation and typical skeletal and facial dysmorphic features. The aim of the study was to present characteristic features of the rare Andersen-Tawil syndrome (ATS) within the face and oral cavity of a 9-year-old boy. The patient was diagnosed with Andersen-Tawil syndrome (OMIM#170390) at the age of 8 due to the positive family history, typical dysmorphic features, and the presence of mutation in the KCNJ2 gene confirmed by genetic testing. Typical manifestations of ATS were diagnosed: cardiac arrhythmia, short stature, scoliosis and clinodactyly. Clinical examination revealed typical facial dysmorphic features of ATS: broad forehead, triangular shape of the face, hypertelorism, microstomia, low-set ears, and mandibular retrognathism. Intraoral examination revealed: high-arched palate, crowding in the dental arches, hypomineralisation of enamel and high incidence of dental caries. Dental age assessment by Demirijan pointed to delayed development of permanent dentition. Cephalometric analysis revealed skeletal class II with high angle vertical jaws relation. Diagnosis of ATS requires high index of suspicion because of a great variability in the clinical manifestation of the syndrome. The subtle nature of the dysmorphic features often delays the diagnosis of this syndrome, and its potentially lethal cardiac arrhythmia remaining undetected.
2

Two pathogenic mutations located within the 5'-regulatory sequence of the GJB1 gene affecting initiation of transcription and translation

84%
Kabzinska D., Kotruchow K., Ryniewicz B., Kochanski A.
Acta Biochimica Polonica
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2011
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tom 58
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nr 3
 In contrast to mutations in the coding sequences of a genes involved in the pathogenesis of Charcot-Marie-Tooth disease (CMT), little is known about CMT phenotypes resulting from a DNA variants located in regulatory sequences of a given " CMT gene". Charcot-Marie-Tooth type X1 disease (CMTX1) is caused by mutations in the GJB1 gene coding for an ion channel known as connexin, with a molecular mass of 32 kDa (Cx32). Only 0.01% of the GJB1 gene mutations have been reported in its 5' regulatory sequence. Pathogenic mutations occured in the internal ribosome entry site (IRES) are extremely rarely reported in human genetic disorders. To the best of our knowledge, in this study we report for the first time in an Eastern European population, two CMTX1 families in which two pathogenic mutations in the 5' regulatory sequence of the GJB1 gene (c.-529T>C and -459C>T) have been found. The two mutations identified in our study disturb the 5' UTR sequence in two different ways, by affecting the transcription factor SOX10 binding site (c.-529T>C) and by the disrupting IRES element of GJB1 gene (c.-459C>T). These regions are responsible for transcription (SOX10) and initiation of translation (IRES), respectively. On the basis of our findings that, in contrast to the most DNA sequence variants reported in untranslated regulatory regions of genes, the c.-459C>T and c.-529T>C mutations remain pathogenic in the context of different ethnic background.
3

Application of non-radioactive methods of DNA detection in analysis of human genetic disorders

84%
Slomski R., Reiss J., Jungerman M.
Acta Biochimica Polonica
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1989
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tom 36
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nr 3-4
4

The 3rd Annual International Umbilical Cord Blood Transplantation Symposium, Los Angeles, California, USA, June 3-4, 2005

84%
Smogorzewska E. M.
Archivum Immunologiae et Therapiae Experimentalis
|
2005
|
tom 53
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nr 4
5

Prenatal diagnosis - principles of diagnostic procedures and genetic counseling

67%
Stembalska A., Slezak R., Pesz K., Gil J., Sasiadek M. M.
Folia Histochemica et Cytobiologica. Supplement
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2007
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tom 45
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nr 1
11-16
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