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Further support lin...
Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene
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- Lundin, Johanna (författare)
- Karolinska Institutet,Karolinska Institute,Karolinska University Hospital,Karolinska Inst, Dept Womens & Childrens Hlth, Stockholm, Sweden;Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden
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- Markljung, Ellen (författare)
- Karolinska Institutet,Karolinska Institute,Karolinska Inst, Dept Womens & Childrens Hlth, Stockholm, Sweden
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- Baranowska Körberg, Izabella (författare)
- Karolinska Institute,Karolinska Inst, Dept Womens & Childrens Hlth, Stockholm, Sweden
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- Hofmeister, Wolfgang (författare)
- Karolinska Institute,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden
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- Cao, Jia (författare)
- Karolinska Institute,Karolinska Inst, Dept Womens & Childrens Hlth, Stockholm, Sweden
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- Nilsson, Daniel (författare)
- Karolinska Institutet,Karolinska Institute,Karolinska University Hospital,Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden;Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden;Karolinska Inst, Sci Life Lab, Sci Pk, Stockholm, Sweden
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- Holmdahl, Gundela, 1956 (författare)
- Gothenburg University,Göteborgs universitet,Karolinska Institutet,University of Gothenburg,Sahlgrens Acad, Dept Pediat Surg, Gothenburg, Sweden,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics
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- Barker, Gillian (författare)
- Uppsala universitet,Uppsala University,Barnkirurgisk forskning
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- Anderberg, Magnus (författare)
- Lund University,Lunds universitet,Barnkirurgi,Forskargrupper vid Lunds universitet,Pediatric surgery,Lund University Research Groups,Skåne University Hospital,Univ Hosp Lund, Dept Pediat Surg, Lund, Sweden
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- Vukojević, Vladana (författare)
- Karolinska Institutet,Karolinska Institute,Karolinska Inst, Ctr Mol Med, Dept Clin Neurosci, Stockholm, Sweden
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- Lindstrand, Anna (författare)
- Karolinska Institutet,Karolinska Institute,Karolinska University Hospital,Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden;Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden
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- Nordenskjöld, Agneta (författare)
- Karolinska Institutet,Karolinska Institute,Karolinska University Hospital,Karolinska Inst, Dept Womens & Childrens Hlth, Stockholm, Sweden;Karolinska Univ Hosp, Astrid Lindgren Children Hosp, Pediat Surg, Stockholm, Sweden
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(creator_code:org_t)
- 2019-05
- 2019
- Engelska.
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Ingår i: Molecular Genetics and Genomic Medicine. - : Wiley. - 2324-9269. ; 7:6
- Relaterad länk:
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http://dx.doi.org/10... (free)
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visa fler...
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https://onlinelibrar...
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https://doi.org/10.1...
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https://uu.diva-port... (primary) (Raw object)
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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https://urn.kb.se/re...
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http://kipublication...
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https://gup.ub.gu.se...
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Abstract
Ämnesord
Stäng
- Background: The bladder exstrophy-epispadias complex (BEEC) is a congenital malformation of the bladder and urethra. The underlying causes of this malformation are still largely unknown; however, aside from environment, genetics is thought to play an essential role. The recurrent 22q11.2 microduplication is the most persistently detected genetic aberration found in BEEC cases. Methods: We performed array comparative genomic hybridization (array-CGH) analysis of 76 Swedish BEEC patients. Statistical analysis was performed on current dataset pooled with previously published data on the 22q11.2 microduplication in BEEC patients. We performed massive parallel sequencing (MPS) of the 22q11.2 region in 20 BEEC patients without the 22q11.2 microduplication followed by functional studies. Results: We identified three additional cases with the 22q11.2 microduplication. Pooling data from this study with previously published reports showed a statistically significant enrichment of the 22q11.2 microduplication in BEEC patients (2.61% in cases vs. 0.08% in controls; OR = 32.6; p = 8.7 × 10−4). MPS of the 22q11.2 region in 20 BEEC patients without the 22q11.2 microduplication identified a novel variant in LZTR1 (p.Ser698Phe) in one patient. Functional evaluation of the LZTR1 p.Ser698Phe variant in live NIH 3T3 cells showed that the concentration and cytoplasmic mobility differ between the Lztr1wt and Lztr1mut, indicating a potential functional effect of the LZTR1mut. Conclusion: Our study further emphasizes the involvement of the 22q11.2 region in BEEC development and highlights LZTR1 as a candidate gene underlying the urogenital malformation.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Urologi och njurmedicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Urology and Nephrology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
Nyckelord
- array-CGH
- bladder exstrophy
- confocal microscopy
- exome sequencing
- fluorescence spectrometry
- LZTR1
- microduplication
- array-CGH
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
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- Av författaren/redakt...
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Lundin, Johanna
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Markljung, Ellen
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Baranowska Körbe ...
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Hofmeister, Wolf ...
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Cao, Jia
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Nilsson, Daniel
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visa fler...
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Holmdahl, Gundel ...
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Barker, Gillian
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Anderberg, Magnu ...
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Vukojević, Vlada ...
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Lindstrand, Anna
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Nordenskjöld, Ag ...
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