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Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly.

Gurnett CA, Bowcock AM, Dietz FR, Morcuende JA, Murray JC, Dobbs MB.

Am J Med Genet A. 2007 Jan 1;143A(1):27-32.


Canine polydactyl mutations with heterogeneous origin in the conserved intronic sequence of LMBR1.

Park K, Kang J, Subedi KP, Ha JH, Park C.

Genetics. 2008 Aug;179(4):2163-72. doi: 10.1534/genetics.108.087114. Epub 2008 Aug 9.


Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes.

Semerci CN, Demirkan F, Ozdemir M, Biskin E, Akin B, Bagci H, Akarsu NA.

Clin Genet. 2009 Jul;76(1):85-90. doi: 10.1111/j.1399-0004.2009.01192.x. Epub 2009 Jun 9.


Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly.

Lettice LA, Horikoshi T, Heaney SJ, van Baren MJ, van der Linde HC, Breedveld GJ, Joosse M, Akarsu N, Oostra BA, Endo N, Shibata M, Suzuki M, Takahashi E, Shinka T, Nakahori Y, Ayusawa D, Nakabayashi K, Scherer SW, Heutink P, Hill RE, Noji S.

Proc Natl Acad Sci U S A. 2002 May 28;99(11):7548-53.


The chicken polydactyly (Po) locus causes allelic imbalance and ectopic expression of Shh during limb development.

Dunn IC, Paton IR, Clelland AK, Sebastian S, Johnson EJ, McTeir L, Windsor D, Sherman A, Sang H, Burt DW, Tickle C, Davey MG.

Dev Dyn. 2011 May;240(5):1163-72. doi: 10.1002/dvdy.22623. Epub 2011 Apr 4.


Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer.

Sun M, Ma F, Zeng X, Liu Q, Zhao XL, Wu FX, Wu GP, Zhang ZF, Gu B, Zhao YF, Tian SH, Lin B, Kong XY, Zhang XL, Yang W, Lo WH, Zhang X.

J Med Genet. 2008 Sep;45(9):589-95. doi: 10.1136/jmg.2008.057646. Epub 2008 Apr 16.


A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb.

Wieczorek D, Pawlik B, Li Y, Akarsu NA, Caliebe A, May KJ, Schweiger B, Vargas FR, Balci S, Gillessen-Kaesbach G, Wollnik B.

Hum Mutat. 2010 Jan;31(1):81-9. doi: 10.1002/humu.21142.


A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency.

Al-Qattan MM, Al Abdulkareem I, Al Haidan Y, Al Balwi M.

Am J Med Genet A. 2012 Oct;158A(10):2610-5. doi: 10.1002/ajmg.a.35584. Epub 2012 Aug 17.


Genomic regions associated with dermal hyperpigmentation, polydactyly and other morphological traits in the Silkie chicken.

Dorshorst B, Okimoto R, Ashwell C.

J Hered. 2010 May-Jun;101(3):339-50. doi: 10.1093/jhered/esp120. Epub 2010 Jan 11.


Mutation analysis of a large Chinese pedigree with congenital preaxial polydactyly.

Li H, Wang CY, Wang JX, Wu GS, Yu P, Yan XY, Chen YG, Zhao LH, Zhang YP.

Eur J Hum Genet. 2009 May;17(5):604-10. doi: 10.1038/ejhg.2008.240. Epub 2008 Dec 10.


Direct functional consequences of ZRS enhancer mutation combine with secondary long range SHH signalling effects to cause preaxial polydactyly.

Johnson EJ, Neely DM, Dunn IC, Davey MG.

Dev Biol. 2014 Aug 15;392(2):209-20. doi: 10.1016/j.ydbio.2014.05.025. Epub 2014 Jun 5.


A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly.

Lettice LA, Heaney SJ, Purdie LA, Li L, de Beer P, Oostra BA, Goode D, Elgar G, Hill RE, de Graaff E.

Hum Mol Genet. 2003 Jul 15;12(14):1725-35.


A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form.

VanderMeer JE, Lozano R, Sun M, Xue Y, Daentl D, Jabs EW, Wilcox WR, Ahituv N.

Hum Mutat. 2014 Aug;35(8):945-8. doi: 10.1002/humu.22581. Epub 2014 Jun 3.


Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly.

Albuisson J, Isidor B, Giraud M, Pichon O, Marsaud T, David A, Le Caignec C, Bezieau S.

Clin Genet. 2011 Apr;79(4):371-7. doi: 10.1111/j.1399-0004.2010.01465.x.


A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb.

Furniss D, Lettice LA, Taylor IB, Critchley PS, Giele H, Hill RE, Wilkie AO.

Hum Mol Genet. 2008 Aug 15;17(16):2417-23. doi: 10.1093/hmg/ddn141. Epub 2008 May 7.


Point mutations in a distant sonic hedgehog cis-regulator generate a variable regulatory output responsible for preaxial polydactyly.

Lettice LA, Hill AE, Devenney PS, Hill RE.

Hum Mol Genet. 2008 Apr 1;17(7):978-85. Epub 2007 Dec 21.


Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS.

Farooq M, Troelsen JT, Boyd M, Eiberg H, Hansen L, Hussain MS, Rehman Su, Azhar A, Ali A, Bakhtiar SM, Tommerup N, Baig SM, Kjaer KW.

Eur J Hum Genet. 2010 Jun;18(6):733-6. doi: 10.1038/ejhg.2009.225. Epub 2010 Jan 13.

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