Familial dorsalization of the skin of the proximal palm and the instep of the sole of the foot

Gene

Volumn 500, Issue 2, 2012, Pages 216-219

  Al Qattan, M M ^a   Shamseldin, H E ^b   Alkuraya, F S ^b,c,d  

^a KING SAUD UNIVERSITY   (Saudi Arabia)

^b KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^c ALFAISAL UNIVERSITY   (Saudi Arabia)

^d KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

Author keywords

Autosomal dominant; Dimelia; GEL1; Palmar hamartoma

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; DORSAL DIMELIA; EXOME; FEMALE; FOOT SOLE; GENE EXPRESSION; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE; HAND PALM; HUMAN; LINKAGE ANALYSIS; MALE; PRIORITY JOURNAL; SKIN;

BASE SEQUENCE; BODY PATTERNING; EXOME; FEMALE; FOOT; FOOT DEFORMITIES, CONGENITAL; GENETIC ASSOCIATION STUDIES; GENETIC LINKAGE; GENOTYPE; HAND; HAND DEFORMITIES, CONGENITAL; HUMANS; MALE; MOLECULAR SEQUENCE DATA; NUCLEOCYTOPLASMIC TRANSPORT PROTEINS; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA; SKIN;

EID: 84860477910     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.03.009     Document Type: Article

References (15)

1. Ahn K., Mishina Y., Hanks M.C., Behringer R.R., Crenshaw E.B. BMPR-IA signaling is required for the formation of the apical ectodermal ridge and dorsal-ventral patterning of the limb. Development 2001, 128:4449-4461.
2. Al-Qattan M.M. Dorsal dimelia of the index finger in a patient with absent thumb and radial club hand. Ann. Plast. Surg. 2011, 67:90-91.
3. Al-Qattan M.M. Fanconi anemia with concurrent thumb polydactyly and dorsal dimelia: a case report with discussion of embryology. Ann. Plast. Surg. 2011.
4. Al-Qattan M.M., Al-Balwi M., Eyaid W., Al-Abdulkarim I., Al-Turki S. Congenital duplication of the palm syndrome: gene analysis and the molecular basis of its clinical features. J. Hand Surg. Eur. Vol. 2009, 34:247-251.
5. Al-Qattan M.M., Almazyad M., Shamseldin H., Alkuraya F.S. Dorsal dimelia: report of two cases with an emphasis on the variation of phenotypic expression and a search for candidate causative genes. J. Hand Surg. Eur. Vol. 2010, 35:715-720.
6. Al-Qattan M.M., Hassanain J., Hawary M.B. Congenital palmar nail syndrome. J. Hand Surg. Br. 1997, 22:674-675.
7. Al-Qattan M.M., Kfoury H. Dorsal dimelia of a thumb. J. Plast. Reconstr. Aesthet. Surg. 2011, 64:e177-e180.
8. Al-Qattan M.M., Yang Y., Kozin S.H. Embryology of the upper limb. J. Hand Surg. Am. 2009, 34:1340-1350.
9. Alcazar-Roman A.R., Bolger T.A., Wente S.R. Control of mRNA export and translation termination by inositol hexakisphosphate requires specific interaction with Gle1. J. Biol. Chem. 2010, 285:16683-16692.
10. Fattah A., Pickford M.A. Dorsal dimelia in Patau syndrome. A case report. J. Hand Surg. Eur. 2007, 32:534-536.
11. Hurt J.A., Silver P.A. mRNA nuclear export and human disease. Dis. Model Mech. 2008, 1:103-108.
12. Loomis C.A., Harris E., Michaud J., Wurst W., Hanks M., Joyner A.L. The mouse Engrailed-1 gene and ventral limb patterning. Nature 1996, 382:360-363.
13. Nousiainen H.O., Kestila M., Pakkasjarvi N., Honkala H., Kuure S., Tallila J., Vuopala K., Ignatius J., Herva R., Peltonen L. Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. Nat. Genet. 2008, 40:155-157.
14. Riddle R.D., Ensini M., Nelson C., Tsuchida T., Jessell T.M., Tabin C. Induction of the LIM homeobox gene Lmx1 by WNT7a establishes dorsoventral pattern in the vertebrate limb. Cell 1995, 83:631-640.
15. Vogel A., Rodriguez C., Warnken W., Izpisua Belmonte J.C. Dorsal cell fate specified by chick Lmx1 during vertebrate limb development. Nature 1995, 378:716-720.