Wyniki wyszukiwania

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Novel insertion in exon 5 of the TCOF1 gene in twin sisters with Treacher Collins syndrome

100%

Marszalek-Kruk B. A., Wojcicki P., Smigiel R., Trzeciak W. H.

Journal of Applied Genetics

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2012

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tom 53

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nr 3

Treacher Collins syndrome (TCS) is associated with an abnormal differentiation of the first and second pharyngeal arches during fetal development. This causes mostly craniofacial deformities, which require numerous corrective surgeries. TCS is an autosomal dominant disorder and it occurs in the general population at a frequency of 1 in 50,000 live births. The syndrome is caused by mutations in the TCOF1 gene, which encodes the serine/alanine-rich protein named Treacle. Over 120 mutations of the TCOF1 gene responsible for TCS have been described. About 70% of recognized mutations are deletions, which lead to a frame shift, formation of a termination codon, and shortening of the protein product of the gene. Herewith, a new heterozygotic insertion, c.484_668ins185bp, was described in two monozygotic twin sisters suffering from TCS. This mutation was absent in their father, brother, and uncle, indicating a de novo origin. The insertion causes a shift in the reading frame and premature termination of translation at 167 aa. The novel insertion is the longest ever found in the TCOF1 gene and the only one found among monozygotic twin sisters.

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Translation and psychometric testing of the Polish version of the Neonatal Extent of Work Rationing Instrument (NEWRI)

100%

Rozensztrauch A., Uchmanowicz I., Suchowska B., Smigiel R.

Annals of Agricultural and Environmental Medicine

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2021

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tom 28

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nr 1

3

Niestabilnosc genetyczna w nowotworach. II. Niestabilnosc mikrosatelitarna i utrata heterozygotycznosci

88%

Stembalska-Kozlowska A., Smigiel R., Schlade-Bartusiak K., Dus D., Sasiadek M.

Postępy Biologii Komórki

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2003

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tom 30

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nr 4

635-646

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Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations

76%

Smigiel R., Bezniakow N., Jakubiak A., Bloch M., Patkowski D., Obersztyn E., Sasiadek M. M.

Journal of Applied Genetics

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2015

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tom 56

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nr 2

5

Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient

76%

Smigiel R., Szafranska A., Czyzewska M., Rauch A., Zweier C., Patkowski D.

Journal of Applied Genetics

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2010

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tom 51

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nr 1

111-113

We present a clinical case of a female infant with multiple anomalies and distinctive facial features, with an exceptionally severe clinical course of Hirschsprung disease. The girl was also diagnosed with Mowat-Wilson syndrome, confirmed by molecular analysis as a heterozygous deletion of the ZEB2 gene. Moreover, molecular karyotyping revealed a deletion involving further genes (KYNU, ARHGAP15, and GTDC1).

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Mutacje eksonu 1, 11 oraz 20 genu TCOF1 u chorych z zespołem Treachera Collinsa

76%

Wierzbicka B., Marszalek-Kruk B., Wojcicki P., Smigiel R., Kosowska B., Moska M., Strzala T.

Zeszyty Naukowe Uniwersytetu Przyrodniczego we Wrocławiu. Biologia i Hodowla Zwierząt

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2009

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tom 59

7

A TMC1 (transmembrane channel-like 1) mutation (p.S320R) in a Polish family with hearing impairment

76%

Hassan M. A., Shah A. A., Szmida E., Smigiel R., Sasiadek M. M., Pfister M., Blin N.

Journal of Applied Genetics

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2015

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tom 56

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nr 3

8

Niestabilnosc genetyczna w nowotworach. I. Niestabilnosc chromosomowa w nowotworach.

76%

Sasiadek M., Schlade-Bartusiak K., Stembalska-Kozlowska A., Bielawska-Pohl A., Smigiel R., Dus D.

Postępy Biologii Komórki

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2003

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tom 30

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nr 2

259-272

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Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome

64%

Koczkowska M., Wierzba J., Smigiel R., Sasiadek M., Cabala M., Slezak R., Iliszko M., Kardas I., Limon J., Lipska-Zietkiewicz B. S.

Journal of Applied Genetics

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2017

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tom 58

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nr 1

10

Single nucleotide polymorphisms in the RET gene and their correlations with Hirschsprung disease phenotype

64%

Smigiel R., Lebioda A., Patkowski D., Czernik J., Dobosz T., Pesz K., Kaczmarz M., Sasiadek M. M.

Journal of Applied Genetics

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2006

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tom 47

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nr 3

Hirschsprung disease (HSCR) is a congenital, heterogeneous disorder, characterized by the absence of intestinal ganglion cells. Recent advances show that the RET gene is a major locus involved in the pathogenesis of HSCR. The aim of this study was to analyse if the HSCR phenotype in the Polish population is associated with the presence of polymorphisms in exons 2,3,7,11,13,14 and 15 of the RET gene. Molecular results were compared with clinical and long-term follow-up data in 70 Polish patients with HSCR (84.3% with a short segment and 15.7% with a long segment of aganglionic gut). Single-nucleotide polymorphisms were analysed by using the minisequencing SNaPshot multiplex method. The 135G>A polymorphism in RET exon 2 was overrepresented in HSCR patients, compared with a healthy control group. Moreover, the 135G>A variant was shown to be associated with the severe HSCR phenotype. Two other polymorphisms, 2071G>A in exon 11 and 2712C>G in exon 15, were underrepresented in the patients. The results confirm that these RET polymorphisms play a role in the aetiology of HSCR.

Ograniczanie wyników

Novel insertion in exon 5 of the TCOF1 gene in twin sisters with Treacher Collins syndrome

Translation and psychometric testing of the Polish version of the Neonatal Extent of Work Rationing Instrument (NEWRI)

Niestabilnosc genetyczna w nowotworach. II. Niestabilnosc mikrosatelitarna i utrata heterozygotycznosci

Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations

Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient

Mutacje eksonu 1, 11 oraz 20 genu TCOF1 u chorych z zespołem Treachera Collinsa

A TMC1 (transmembrane channel-like 1) mutation (p.S320R) in a Polish family with hearing impairment

Niestabilnosc genetyczna w nowotworach. I. Niestabilnosc chromosomowa w nowotworach.

Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome

Single nucleotide polymorphisms in the RET gene and their correlations with Hirschsprung disease phenotype