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10.1186/s12881-015-0245-3 http://scihub22266oqcxt.onion/10.1186/s12881-015-0245-3 C4623244!4623244!26502924     free     free     free Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       BMC+Med+Genet 2015 ; 16 (ä): ä Nephropedia Template TP {{tp|p=26502924|t=2015. Intragenic duplication in the PHKD1 gene in autosomal recessive polycystic kidney disease |pdf=|usr=}}{{26502924}} gab.com Text Intragenic duplication in the PHKD1 gene in autosomal recessive polycystic kidney disease JO: BMC Med Genet http://www.kidney.de/pget.php?&tw=1&pmid=26502924 #FOAvip Background: In the present study, we report on a couple who underwent prenatal genetic diagnosis for autosomal recessive polycystic kidney disease (ARPKD). Case presentation: This healthy couple had previously had a healthy boy but had experienced two consecutive neonatal deaths due to respiratory distress resulting from pulmonary hypoplasia caused by oligohydramnios. The woman consulted our facility after she realized she was pregnant again. We promptly performed a carrier test for the PKHD1 gene by target exome sequencing of samples from the couple. A pathogenic mutation was identified only in the paternal allele (c.9008C>T, p.S3003F). The mutation was confirmed by Sanger sequencing of the DNA from formalin-fixed, paraffin-embedded, kidney tissue of the second neonate patient and was not found in the healthy sibling. We then performed haplotype analyses using microsatellite markers scattered throughout the PKHD1 gene. DNA from the amniocentesis was determined to belong to a carrier, and the couple decided to continue with the pregnancy, obtaining a healthy newborn. Subsequent detailed examination of the exome data suggested higher read depth at exons 45 and 46. Multiplex ligation-dependent probe amplification allowed identification of duplication of these two exons. This case suggests the potential usefulness of target exome sequencing in the prenatal diagnosis of the PKHD1 gene in ARPKD. Conclusions: This is the first report of intragenic duplication in the PKHD1 gene in ARPKD. Electronic supplementary material: The online version of this article (doi:10.1186/s12881-015-0245-3) contains supplementary material, which is available to authorized users. Twit Text FOAVip Intragenic duplication in the PHKD1 gene in autosomal recessive polycystic kidney disease ????BMC Med Genet http://www.kidney.de/pget.php?&tw=1&pmid=26502924 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26502924 #FOAvip English Wikipedia <ref>{{Cite pmid|26502924}}</ref> Intragenic duplication in the PHKD1 gene in autosomal recessive polycystic kidney disease #MMPMID26502924 Miyazaki J; Ito M; Nishizawa H; Kato T; Minami Y; Inagaki H; Ohye T; Miyata M; Boda H; Kiriyama Y; Kuroda M; Sekiya T; Kurahashi H; Fujii T BMC Med Genet 2015[]; 16 (ä): ä PMID26502924show ga Background: In the present study, we report on a couple who underwent prenatal genetic diagnosis for autosomal recessive polycystic kidney disease (ARPKD). Case presentation: This healthy couple had previously had a healthy boy but had experienced two consecutive neonatal deaths due to respiratory distress resulting from pulmonary hypoplasia caused by oligohydramnios. The woman consulted our facility after she realized she was pregnant again. We promptly performed a carrier test for the PKHD1 gene by target exome sequencing of samples from the couple. A pathogenic mutation was identified only in the paternal allele (c.9008C>T, p.S3003F). The mutation was confirmed by Sanger sequencing of the DNA from formalin-fixed, paraffin-embedded, kidney tissue of the second neonate patient and was not found in the healthy sibling. We then performed haplotype analyses using microsatellite markers scattered throughout the PKHD1 gene. DNA from the amniocentesis was determined to belong to a carrier, and the couple decided to continue with the pregnancy, obtaining a healthy newborn. Subsequent detailed examination of the exome data suggested higher read depth at exons 45 and 46. Multiplex ligation-dependent probe amplification allowed identification of duplication of these two exons. This case suggests the potential usefulness of target exome sequencing in the prenatal diagnosis of the PKHD1 gene in ARPKD. Conclusions: This is the first report of intragenic duplication in the PKHD1 gene in ARPKD. Electronic supplementary material: The online version of this article (doi:10.1186/s12881-015-0245-3) contains supplementary material, which is available to authorized users. äIntragenic duplication in the PHKD1 gene in autosomal recessive polycy(epmc).pdf DeepDyve Pubget Overpricing