Severe Cenani-Lenz syndrome caused by loss of LRP4 function

Limb patterning and growth are complex embryonic processes in which the elaborately orchestrated interplay of diverse endocrine and paracrine factors is crucial to limb integrity. LRP4 is a lipoprotein receptor known for its regulatory effects on LRP5‐ and LRP6‐mediated Wnt signaling, a pathway that...

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Published in:	American journal of medical genetics. Part A Vol. 161A; no. 6; pp. 1475 - 1479
Main Authors:	Kariminejad, Ariana, Stollfuß, Barbara, Li, Yun, Bögershausen, Nina, Boss, Karin, Hennekam, Raoul C.M., Wollnik, Bernd
Format:	Journal Article
Language:	English
Published:	United States Blackwell Publishing Ltd 01-06-2013 Wiley Subscription Services, Inc
Subjects:	Abnormalities, Multiple - diagnosis Abnormalities, Multiple - genetics Cenani-Lenz syndrome Codon, Nonsense Embryos Genetic Association Studies Homozygote Humans Infant LDL-Receptor Related Proteins - genetics LDL-Receptor Related Proteins - metabolism Limb Deformities, Congenital - diagnosis Limb Deformities, Congenital - genetics limb development LRP4 Male oligodactyly Pedigree Phenotype Sequence Analysis, DNA Signal Transduction syndactyly Syndactyly - diagnosis Syndactyly - genetics
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Abstract	Limb patterning and growth are complex embryonic processes in which the elaborately orchestrated interplay of diverse endocrine and paracrine factors is crucial to limb integrity. LRP4 is a lipoprotein receptor known for its regulatory effects on LRP5‐ and LRP6‐mediated Wnt signaling, a pathway that plays a pivotal role in limb development. Recessive mutations in LRP4 have been shown to cause Cenani–Lenz syndrome, which is characterized by severe limb malformations, an unusual face, and renal abnormalities. We report on a child with severe Cenani–Lenz syndrome caused by a novel homozygous nonsense mutation in LRP4. The severity of the phenotype in a patient with absent residual LRP4 function may point to a genotype–phenotype correlation. © 2013 Wiley Periodicals, Inc.
AbstractList	Limb patterning and growth are complex embryonic processes in which the elaborately orchestrated interplay of diverse endocrine and paracrine factors is crucial to limb integrity. LRP4 is a lipoprotein receptor known for its regulatory effects on LRP5‐ and LRP6‐mediated Wnt signaling, a pathway that plays a pivotal role in limb development. Recessive mutations in LRP4 have been shown to cause Cenani–Lenz syndrome, which is characterized by severe limb malformations, an unusual face, and renal abnormalities. We report on a child with severe Cenani–Lenz syndrome caused by a novel homozygous nonsense mutation in LRP4. The severity of the phenotype in a patient with absent residual LRP4 function may point to a genotype–phenotype correlation. © 2013 Wiley Periodicals, Inc. Limb patterning and growth are complex embryonic processes in which the elaborately orchestrated interplay of diverse endocrine and paracrine factors is crucial to limb integrity. LRP4 is a lipoprotein receptor known for its regulatory effects on LRP5- and LRP6-mediated Wnt signaling, a pathway that plays a pivotal role in limb development. Recessive mutations in LRP4 have been shown to cause Cenani-Lenz syndrome, which is characterized by severe limb malformations, an unusual face, and renal abnormalities. We report on a child with severe Cenani-Lenz syndrome caused by a novel homozygous nonsense mutation in LRP4. The severity of the phenotype in a patient with absent residual LRP4 function may point to a genotype-phenotype correlation. Limb patterning and growth are complex embryonic processes in which the elaborately orchestrated interplay of diverse endocrine and paracrine factors is crucial to limb integrity. LRP4 is a lipoprotein receptor known for its regulatory effects on LRP5- and LRP6-mediated Wnt signaling, a pathway that plays a pivotal role in limb development. Recessive mutations in LRP4 have been shown to cause Cenani-Lenz syndrome, which is characterized by severe limb malformations, an unusual face, and renal abnormalities. We report on a child with severe Cenani-Lenz syndrome caused by a novel homozygous nonsense mutation in LRP4. The severity of the phenotype in a patient with absent residual LRP4 function may point to a genotype-phenotype correlation. copyright 2013 Wiley Periodicals, Inc. Limb patterning and growth are complex embryonic processes in which the elaborately orchestrated interplay of diverse endocrine and paracrine factors is crucial to limb integrity. LRP4 is a lipoprotein receptor known for its regulatory effects on LRP5- and LRP6-mediated Wnt signaling, a pathway that plays a pivotal role in limb development. Recessive mutations in LRP4 have been shown to cause Cenani-Lenz syndrome, which is characterized by severe limb malformations, an unusual face, and renal abnormalities. We report on a child with severe Cenani-Lenz syndrome caused by a novel homozygous nonsense mutation in LRP4. The severity of the phenotype in a patient with absent residual LRP4 function may point to a genotype-phenotype correlation. © 2013 Wiley Periodicals, Inc. [PUBLICATION ABSTRACT]
Author	Wollnik, Bernd Hennekam, Raoul C.M. Li, Yun Stollfuß, Barbara Kariminejad, Ariana Bögershausen, Nina Boss, Karin
Author_xml	– sequence: 1 givenname: Ariana surname: Kariminejad fullname: Kariminejad, Ariana organization: Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran – sequence: 2 givenname: Barbara surname: Stollfuß fullname: Stollfuß, Barbara organization: Institute of Human Genetics, University of Cologne, Cologne, Germany – sequence: 3 givenname: Yun surname: Li fullname: Li, Yun organization: Institute of Human Genetics, University of Cologne, Cologne, Germany – sequence: 4 givenname: Nina surname: Bögershausen fullname: Bögershausen, Nina organization: Institute of Human Genetics, University of Cologne, Cologne, Germany – sequence: 5 givenname: Karin surname: Boss fullname: Boss, Karin organization: Institute of Human Genetics, University of Cologne, Cologne, Germany – sequence: 6 givenname: Raoul C.M. surname: Hennekam fullname: Hennekam, Raoul C.M. organization: Department of Pediatrics and Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands – sequence: 7 givenname: Bernd surname: Wollnik fullname: Wollnik, Bernd email: Correspondence to:Prof. Bernd Wollnik, M.D., Institute of Human Genetics, University of Cologne, Kerpener Str. 34, 50931 Cologne, Germany., bwollnik@uni-koeln.de organization: Institute of Human Genetics, University of Cologne, Cologne, Germany
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Cites_doi	10.1371/journal.pone.0010418 10.1016/j.cell.2009.11.035 10.1111/j.1399-0004.1982.tb02083.x 10.1034/j.1399-0004.2001.590312.x 10.1097/00019605-200304000-00001 10.1097/MCD.0b013e328306a6ed 10.1111/j.1460-9568.2006.04846.x 10.1016/j.ydbio.2012.01.014 10.1016/j.ajhg.2010.03.004 10.1007/BF00438491 10.1097/00019605-200207000-00014 10.1002/(SICI)1096-8628(19970627)70:4<341::AID-AJMG1>3.0.CO;2-W 10.1097/01.mcd.0000127466.26888.15
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References_xml	– volume: 11 start-page: 41 year: 2000 end-page: 47 article-title: A variant of Cenani–Lenz type syndactyly publication-title: Genet Couns – volume: 101 start-page: 181 year: 1967 end-page: 190 article-title: Total syndactylia and total radioulnar synostosis in 2 brothers. A contribution on the genetics of syndactylia publication-title: Z Kinderheilkd – volume: 23 start-page: 2864 year: 2006 end-page: 2876 article-title: Interaction of LDL receptor‐related protein 4 (LRP4) with postsynaptic scaffold proteins via its C‐terminal PDZ domain‐binding motif, and its regulation by Ca/calmodulin‐dependent protein kinase II publication-title: Eur J Neurosci – volume: 11 start-page: 215 year: 2002 end-page: 218 article-title: Cenani–Lenz syndrome: Report of a new case and review of the literature publication-title: Clin Dysmorphol – volume: 12 start-page: 77 year: 2003 end-page: 83 article-title: Mild facial dysmorphism and quasidominant inheritance in Cenani–Lenz syndrome publication-title: Clin Dysmorphol – volume: 70 start-page: 341 year: 1997 end-page: 345 article-title: Dermatoglyphics in patients with Cenani–Lenz type syndactyly: Studies in a new case publication-title: Am J Med Genet – volume: 139 start-page: 1056 year: 2009 end-page: 1068 article-title: Wnt signaling and the polarity of the primary body axis publication-title: Cell – volume: 14 start-page: 313 year: 2003 end-page: 319 article-title: Two unusual types of syndactyly in the same family; Cenani–Lenz type and “new” type versus severe type I syndactyly publication-title: Genet Couns – volume: 188 start-page: 359 year: 1976 end-page: 365 article-title: Total syndactylism with mesomelic shortening of the arm, radioulnar and metacarpal synostoses and disorganization of the phalanges (“cenanisyndactylism”) publication-title: Klin Pädiatr – volume: 364 start-page: 11 year: 2012 end-page: 21 article-title: A protein kinase A and Wnt‐dependent network regulating an intermediate stage in epithelial tubulogenesis during kidney development publication-title: Dev Biol – volume: 21 start-page: 74 year: 1979 end-page: 79 article-title: Oligodactyly and multiple synostoses of the extremities: Two cases in sibs. A variant of Cenani–Lenz type of syndactyly publication-title: Clin Genet – volume: 5 start-page: e10418 year: 2010 article-title: Lrp4 regulates initiation of ureteric budding and is crucial for kidney formation—A mouse model for Cenani–Lenz syndrome publication-title: PLoS ONE – volume: 17 start-page: 269 year: 2008 end-page: 270 article-title: Cenani–Lenz syndactyly with facial dysmorphism, hypothyroidism, and renal hypoplasia: A case report publication-title: Clin Dysmorphol – volume: 59 start-page: 203 year: 2001 end-page: 205 article-title: Cenani–Lenz syndrome with renal hypoplasia is not linked to FORMIN or GREMLIN publication-title: Clin Genet – volume: 13 start-page: 143 year: 2004 end-page: 150 article-title: Cenani–Lenz syndactyly in a patient with features of Kabuki syndrome publication-title: Clin Dysmorphol – volume: 86 start-page: 696 year: 2010 end-page: 706 article-title: mutations alter Wnt/beta‐catenin signaling and cause limb and kidney malformations in Cenani–Lenz syndrome publication-title: Am J Hum Genet – volume: 21 start-page: 74 year: 1982 end-page: 79 article-title: Present nosology of the Cenani–Lenz type of syndactyly publication-title: Clin Genet – volume: 3 start-page: 145 year: 1992 end-page: 147 article-title: Cenani–Lenz type of syndactyly: A complex type of syndactyly with multiple synostoses publication-title: Genet Couns – ident: e_1_2_6_11_1 doi: 10.1371/journal.pone.0010418 – ident: e_1_2_6_15_1 doi: 10.1016/j.cell.2009.11.035 – ident: e_1_2_6_16_1 doi: 10.1111/j.1399-0004.1982.tb02083.x – ident: e_1_2_6_2_1 doi: 10.1034/j.1399-0004.2001.590312.x – volume: 11 start-page: 41 year: 2000 ident: e_1_2_6_17_1 article-title: A variant of Cenani–Lenz type syndactyly publication-title: Genet Couns contributor: fullname: Seven M – ident: e_1_2_6_18_1 doi: 10.1097/00019605-200304000-00001 – ident: e_1_2_6_10_1 doi: 10.1097/MCD.0b013e328306a6ed – ident: e_1_2_6_19_1 doi: 10.1111/j.1460-9568.2006.04846.x – ident: e_1_2_6_9_1 doi: 10.1016/j.ydbio.2012.01.014 – ident: e_1_2_6_12_1 doi: 10.1016/j.ajhg.2010.03.004 – ident: e_1_2_6_3_1 doi: 10.1007/BF00438491 – ident: e_1_2_6_13_1 doi: 10.1097/00019605-200207000-00014 – volume: 188 start-page: 359 year: 1976 ident: e_1_2_6_6_1 article-title: Total syndactylism with mesomelic shortening of the arm, radioulnar and metacarpal synostoses and disorganization of the phalanges (“cenanisyndactylism”) publication-title: Klin Pädiatr contributor: fullname: Drohm D – volume: 21 start-page: 74 year: 1979 ident: e_1_2_6_5_1 article-title: Oligodactyly and multiple synostoses of the extremities: Two cases in sibs. A variant of Cenani–Lenz type of syndactyly publication-title: Clin Genet contributor: fullname: Dodinval P – volume: 3 start-page: 145 year: 1992 ident: e_1_2_6_4_1 article-title: Cenani–Lenz type of syndactyly: A complex type of syndactyly with multiple synostoses publication-title: Genet Couns contributor: fullname: De Smet L – ident: e_1_2_6_7_1 doi: 10.1002/(SICI)1096-8628(19970627)70:4<341::AID-AJMG1>3.0.CO;2-W – volume: 14 start-page: 313 year: 2003 ident: e_1_2_6_14_1 article-title: Two unusual types of syndactyly in the same family; Cenani–Lenz type and “new” type versus severe type I syndactyly publication-title: Genet Couns contributor: fullname: Percin EF – ident: e_1_2_6_8_1 doi: 10.1097/01.mcd.0000127466.26888.15
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SubjectTerms	Abnormalities, Multiple - diagnosis Abnormalities, Multiple - genetics Cenani-Lenz syndrome Codon, Nonsense Embryos Genetic Association Studies Homozygote Humans Infant LDL-Receptor Related Proteins - genetics LDL-Receptor Related Proteins - metabolism Limb Deformities, Congenital - diagnosis Limb Deformities, Congenital - genetics limb development LRP4 Male oligodactyly Pedigree Phenotype Sequence Analysis, DNA Signal Transduction syndactyly Syndactyly - diagnosis Syndactyly - genetics
Title	Severe Cenani-Lenz syndrome caused by loss of LRP4 function
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