Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome

Nature Genetics
Jürgen KohlhaseW Engel

Abstract

Townes-Brocks syndrome (TBS, OMIM #107480) is a rare autosomal-dominant malformation syndrome with a combination of anal, renal, limb and ear anomalies. Cytogenetic findings suggested that the gene mutated in TBS maps to chromosome 16q12.1, where SALL1 (previously known as HSAL1), a human homologue of spalt (sal), is located. SAL is a developmental regulator in Drosophila melanogaster and is conserved throughout evolution. No phenotype has yet been attributed to mutations in vertebrate sal-like genes. The expression patterns of sal-like genes in mouse, Xenopus and the fish Medaka, and the finding that Medaka sal is regulated by Sonic hedgehog (Shh; ref. 11), prompted us to examine SALL1 as a TBS candidate gene. Here we demonstrate that SALL1 mutations cause TBS in a family with vertical transmission of TBS and in an unrelated family with a sporadic case of TBS. Both mutations are predicted to result in a prematurely terminated SALL1 protein lacking all putative DNA binding domains. TBS therefore represents another human developmental disorder caused by mutations in a putative C2H2 zinc-finger transcription factor.

References

Oct 1, 1991·American Journal of Medical Genetics·T H CameronA S Aylsworth
Aug 1, 1972·The Journal of Pediatrics·P L Townes, E R Brocks
May 1, 1984·American Journal of Medical Genetics·J Monteiro de Pina-Neto
Sep 1, 1994·Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery·D R Rossmiller, T R Pasic
Jan 11, 1996·American Journal of Medical Genetics·S IshikiriyamaT Inoue
Jan 1, 1996·Developmental Genetics·C Tickle
Jan 1, 1997·Clinical Dysmorphology·W G NewmanD Donnai
Mar 28, 1997·The Journal of Biological Chemistry·R P ValentiniL B Holzman

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Citations

Oct 17, 2002·Journal of Neurobiology·Jason C Caldwell, Daniel F Eberl
Mar 16, 2013·Journal of Comparative Physiology. A, Neuroethology, Sensory, Neural, and Behavioral Physiology·Eriko Matsuo, Azusa Kamikouchi
May 25, 2005·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Stefanie WeberFranz Schaefer
Apr 24, 2007·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Sanjay JainHelen Liapis
Apr 18, 2007·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Simone Sanna-CherchiGian Marco Ghiggeri
Feb 22, 2011·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Ryuichi NishinakamuraSayoko Fujimura
Jan 25, 2011·Pathology Oncology Research : POR·Jeremy DeischDinesh Rakheja
Mar 16, 2004·Journal of Pediatric Surgery·Timothy J FairbanksR Cartland Burns
Sep 28, 1999·Trends in Genetics : TIG·S Manouvrier-HanuS Lyonnet
Oct 18, 2002·Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society·A Pérez-CabreraJ C Zenteno
Nov 25, 2003·Seminars in Cell & Developmental Biology·Ryuichi Nishinakamura
Apr 3, 1999·Clinical Genetics·A V RamananF R Goodman
May 20, 1999·Clinical Genetics·D Lacombe
Feb 11, 2000·Clinical Genetics·T D Piscione, N D Rosenblum
Nov 28, 2009·Hypertension Research : Official Journal of the Japanese Society of Hypertension·Chii YamamotoKoichi Matsumoto
Dec 17, 2009·Hypertension Research : Official Journal of the Japanese Society of Hypertension·Yoshiaki Taniyama, Ryuichi Morishita
Jun 4, 2010·Journal of Human Genetics·Yosuke SudoKiyoshi Hayasaka
Nov 7, 2006·Nature·Len A PennacchioEdward M Rubin
Feb 18, 2003·Journal of Anatomy·Andrew O M Wilkie
Jun 22, 2010·The Journal of Biological Chemistry·Jonatan SánchezRosa Barrio
Nov 11, 2010·The Journal of Biological Chemistry·Efthimia KarantzaliAndroniki Kretsovali
Jan 8, 2010·Journal of Biochemistry·Qing JiangRyuichi Nishinakamura
Feb 11, 2009·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Stanislas FaguerDominique Chauveau
Dec 17, 2009·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Shazia AshrafFriedhelm Hildebrandt
Jan 14, 2011·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Chang K SungThomas L Benjamin
Oct 18, 2001·Plastic and Reconstructive Surgery·G B WongB R Benacerraf
Aug 2, 2001·Genetics in Medicine : Official Journal of the American College of Medical Genetics·C E KeeganB R Korf
Jan 17, 2012·Current Opinion in Pediatrics·Stefanie Weber
Jun 26, 2007·Development, Growth & Differentiation·Nadia Mercader
Jan 14, 2004·Kidney International·Hassane IzzedineGilbert Deray
Jan 14, 2009·Molecular and Cellular Biology·Yuko ShikauchiHirohide Yoshikawa
Dec 17, 2002·Molecular and Cellular Biology·Akira SatoRyuichi Nishinakamura
Apr 15, 2004·Molecular and Cellular Biology·Dawei LiThomas Benjamin
Oct 14, 2000·Annual Review of Cell and Developmental Biology·B R OlsenW Wang
Nov 4, 2008·Annual Review of Medicine·Elena Torban, Paul Goodyer
Aug 19, 2011·Orphanet Journal of Rare Diseases·Benjamin D Solomon
Jan 27, 2009·Development·Yasuhiko KawakamiJuan Carlos Izpisua Belmonte

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