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10.1038/ejhg.2013.229 http://scihub22266oqcxt.onion/10.1038/ejhg.2013.229 C4023207!4023207!24105366     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       Eur+J+Hum+Genet 2014 ; 22 (6): 741-7 Nephropedia Template TP {{tp|p=24105366|t=2014. Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome |pdf=|usr=}}{{24105366}} gab.com Text Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome JO: Eur J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=24105366 #FOAvip Borrone Dermato-Cardio-Skeletal (BDCS) syndrome is a severe progressive autosomal recessive disorder characterized by coarse facies, thick skin, acne conglobata, dysmorphic facies, vertebral abnormalities and mitral valve prolapse. We identified a consanguineous kindred with a child clinically diagnosed with BDCS. Linkage analysis of this family (BDCS1) identified five regions homozygous by descent with a maximum LOD score of 1.75. Linkage analysis of the family that originally defined BDCS (BDCS3) identified an overlapping linkage peak at chromosome 5q35.1. Sequence analysis identified two different homozygous mutations in BDCS1 and BDCS3, affecting the gene encoding the protein SH3 and PX domains 2B (SH3PXD2B), which localizes to 5q35.1. Western blot analysis of patient fibroblasts derived from affected individuals in both families demonstrated complete loss of SH3PXD2B. Homozygosity mapping and sequence analysis in a second published BDCS family (BDCS2) excluded SH3PXD2B. SH3PXD2B is required for the formation of functional podosomes, and loss-of-function mutations in SH3PXD2B have recently been shown to underlie 7 of 13 families with Frank-Ter Haar syndrome (FTHS). FTHS and BDCS share some overlapping clinical features; therefore, our results demonstrate that a proportion of BDCS and FTHS cases are allelic. Mutations in other gene(s) functioning in podosome formation and regulation are likely to underlie the SH3PXD2B-mutation-negative BDSC/FTHS patients. Twit Text FOAVip Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome ????Eur J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=24105366 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=24105366 #FOAvip English Wikipedia <ref>{{Cite pmid|24105366}}</ref> Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome #MMPMID24105366 Wilson GR; Sunley J; Smith KR; Pope K; Bromhead CJ; Fitzpatrick E; Di Rocco M; van Steensel M; Coman DJ; Leventer RJ; Delatycki MB; Amor DJ; Bahlo M; Lockhart PJ Eur J Hum Genet 2014[Jun]; 22 (6): 741-7 PMID24105366show ga Borrone Dermato-Cardio-Skeletal (BDCS) syndrome is a severe progressive autosomal recessive disorder characterized by coarse facies, thick skin, acne conglobata, dysmorphic facies, vertebral abnormalities and mitral valve prolapse. We identified a consanguineous kindred with a child clinically diagnosed with BDCS. Linkage analysis of this family (BDCS1) identified five regions homozygous by descent with a maximum LOD score of 1.75. Linkage analysis of the family that originally defined BDCS (BDCS3) identified an overlapping linkage peak at chromosome 5q35.1. Sequence analysis identified two different homozygous mutations in BDCS1 and BDCS3, affecting the gene encoding the protein SH3 and PX domains 2B (SH3PXD2B), which localizes to 5q35.1. Western blot analysis of patient fibroblasts derived from affected individuals in both families demonstrated complete loss of SH3PXD2B. Homozygosity mapping and sequence analysis in a second published BDCS family (BDCS2) excluded SH3PXD2B. SH3PXD2B is required for the formation of functional podosomes, and loss-of-function mutations in SH3PXD2B have recently been shown to underlie 7 of 13 families with Frank-Ter Haar syndrome (FTHS). FTHS and BDCS share some overlapping clinical features; therefore, our results demonstrate that a proportion of BDCS and FTHS cases are allelic. Mutations in other gene(s) functioning in podosome formation and regulation are likely to underlie the SH3PXD2B-mutation-negative BDSC/FTHS patients. äMutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome (epmc).pdf DeepDyve Pubget Overpricing