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Evaluation of the I...
Evaluation of the ISL1 gene in the pathogenesis of bladder exstrophy in a Swedish cohort
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- Arkani, Samara (author)
- Karolinska Institutet
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Cao, Jia (author)
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- Lundin, Johanna (author)
- Karolinska Institutet
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- Nilsson, Daniel (author)
- Karolinska Institutet
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- Källman, Thomas, 1976- (author)
- Uppsala universitet,Växtekologi och evolution,Institutionen för medicinsk biokemi och mikrobiologi
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Barker, Gillian (author)
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- Holmdahl, Gundela (author)
- Karolinska Institutet
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Clementsson Kockum, Christina (author)
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- Matsson, Hans (author)
- Karolinska Institutet
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- Nordenskjöld, Agneta (author)
- Karolinska Institutet
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(creator_code:org_t)
- 2018-03-29
- 2018
- English.
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In: Human genome variation. - : Springer Nature. - 2054-345X. ; 5:1
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Abstract
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- Bladder exstrophy is a congenital closure defect of the urinary bladder with a profound effect on morbidity. Although the malformation is usually sporadic, a genetic background is supported by an increased recurrence risk in relatives, higher concordance rates in monozygotic twins and several associated chromosomal aberrations. Recently, the ISL1 gene was presented as a candidate gene for bladder exstrophy and epispadias complex (BEEC) development in two different studies. In our study, we screened for genetic variants in the ISL1 gene in DNA from 125 Swedish patients using Sanger sequencing and array-CGH analysis. In addition, we evaluated ISL1 expression in RNA of human bladder during embryonic and fetal weeks 5–10 relative to that in lung tissue (week 9). In total, 21 single-nucleotide variants were identified, including a potentially novel missense variant, c.137C>G p.(Ala46Gly), substituting a conserved amino acid. This variant was inherited from an unaffected mother. No structural variants were identified. RNA sequencing revealed ISL1 mRNA expression during the critical time frame of human bladder development. In conclusion, we did not detect any known or likely pathogenic variants in the ISL1 gene in 125 Swedish BEEC patients, indicating that variation in the ISL1 gene is not a common genetic mechanism of BEEC development in the Swedish population.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- Molekylär genetik
- Molecular Genetics
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Arkani, Samara
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Cao, Jia
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Lundin, Johanna
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Nilsson, Daniel
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Källman, Thomas, ...
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Barker, Gillian
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show more...
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Holmdahl, Gundel ...
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Clementsson Kock ...
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Matsson, Hans
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Nordenskjöld, Ag ...
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Human genome var ...
- By the university
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Uppsala University
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Karolinska Institutet