Literature DB >> 19223930

4q32-q35 and 6q16-q22 are valuable candidate regions for split hand/foot malformation.

Dunja Niedrist1, Iosif W Lurie, Albert Schinzel.   

Abstract

On the basis of the Human Cytogenetic Database, a computerized catalog of the clinical phenotypes associated with cytogenetically detectable human chromosome aberrations, we collected from the literature 102 cases with chromosomal aberrations and split hand/foot malformation or absent fingers/toes. Statistical analysis revealed a highly significant association (P<0.001) between the malformation and the chromosomal bands 4q32-q35, 5q15, 6q16-q22 and 7q11.2-q22 (SHFM1). Considering these findings, we suggest additional SHFM loci on chromosome 4q, 6q and probably 5q. The regions 4q and 6q have already been discussed in the literature as additional SHFM loci. We now show further evidence. In the proposed regions, there are interesting candidate genes such as, on 4q: HAND2, FGF2, LEF1 and BMPR1B; on 5q: MSX2, FLT4, PTX1 and PDLIM7; and on 6q: SNX3, GJA1, HEY2 and Tbx18.

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Year:  2009        PMID： 19223930      PMCID： PMC2986561          DOI： 10.1038/ejhg.2009.11

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


  24 in total

Review 1.  Split hand foot malformation (SHFM).

Authors:  A M Elliott; J A Evans; A E Chudley
Journal:  Clin Genet       Date:  2005-12       Impact factor: 4.438

Review 2.  T-genes and limb bud development.

Authors:  Mary King; Jelena S Arnold; Alan Shanske; Bernice E Morrow
Journal:  Am J Med Genet A       Date:  2006-07-01       Impact factor: 2.802

Review 3.  Congenital abnormalities associated with limb deficiency defects: a population study based on cases from the Hungarian Congenital Malformation Registry (1975-1984).

Authors:  J A Evans; M Vitez; A Czeizel
Journal:  Am J Med Genet       Date:  1994-01-01

Review 4.  Autosomal imbalance syndromes: genetic interactions and the origin of congenital malformations in aneuploidy syndromes.

Authors:  I W Lurie
Journal:  Am J Med Genet       Date:  1993-09-01

5.  Interstitial deletion 6q16.2q22.2 in a child with ectrodactyly.

Authors:  L Correa-Cerro; D Garcíaz-Cruz; L Díaz-Castaños; L E Figuera; J Sanchez-Corona
Journal:  Ann Genet       Date:  1996

6.  Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster.

Authors:  M Del Campo; M C Jones; A N Veraksa; C J Curry; K L Jones; J T Mascarello; Z Ali-Kahn-Catts; T Drumheller; W McGinnis
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

7.  A chromosomal duplication map of malformations: regions of suspected haplo- and triplolethality--and tolerance of segmental aneuploidy--in humans.

Authors:  C Brewer; S Holloway; P Zawalnyski; A Schinzel; D FitzPatrick
Journal:  Am J Hum Genet       Date:  1999-06       Impact factor: 11.025

8.  Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: further evidence for the existence of a limb defect gene in 6q21.

Authors:  F Gurrieri; M Cammarata; R M Avarello; M Genuardi; M G Pomponi; G Neri; L Giuffrè
Journal:  Am J Med Genet       Date:  1995-01-30

9.  A chromosomal deletion map of human malformations.

Authors:  C Brewer; S Holloway; P Zawalnyski; A Schinzel; D FitzPatrick
Journal:  Am J Hum Genet       Date:  1998-10       Impact factor: 11.025

Review 10.  Further study of genetic interactions: loss of short arm material in patients with ring chromosome 4 changes developmental pattern of del(4)(q33).

Authors:  I W Lurie
Journal:  Am J Med Genet       Date:  1995-04-10
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  3 in total

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Authors:  Cindy Hudson; Corbin Schwanke; John P Johnson; Abdallah F Elias; Sandy Phillips; Tammy Schwalbe; Mary Tunby; Dongbin Xu
Journal:  Am J Med Genet A       Date:  2014-04-08       Impact factor: 2.802

2.  Novel and functional variants within the TBX18 gene promoter in ventricular septal defects.

Authors:  Liming Ma; Jianjun Li; Yumei Liu; Shuchao Pang; Wenhui Huang; Bo Yan
Journal:  Mol Cell Biochem       Date:  2013-06-08       Impact factor: 3.396

3.  Assessment of transformed properties in vitro and of tumorigenicity in vivo in primary keratinocytes cultured for epidermal sheet transplantation.

Authors:  A Thépot; A Desanlis; E Venet; L Thivillier; V Justin; A P Morel; F Defraipont; M Till; V Krutovskikh; M Tommasino; O Damour; P Hainaut
Journal:  J Skin Cancer       Date:  2010-09-19
  3 in total

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