Clinical characterization of Post-axial Polydactyly
DOI:
https://doi.org/10.6084/rjas.v1i2.390Keywords:
clinical variabilities, non-syndromic, Post-axial PolydactylyAbstract
Polydactyly is among the most common congenital limb malformations, presenting at an estimated incidence of 1 in approximately 700–1,000 live births. Clinical manifestation of polydactyly remains poorly understood because of their phenotypic variabilities and genetic diversity. Prenatal ultrasound screening can detect polydactyly and can alert the health care worker and the pregnant woman to proceed with further anomaly screening to exclude possible concomitant anomalies The aim of this review is to provide an overview of the genetic basis of non-syndromic post axial polydactyly(PAP) and discuss the role of biological pathways in non-syndromic PAP to help clinicians understand and characterize the disease.
References
2. Zhang Z, Sui P, Dong A, et al. Preaxial polydactyly: interactions among ETV, TWIST1 and HAND2 control anterior-posterior patterning of the limb. Development. 2010;137(20):3417-3426.
3. C astilla E, Paz J, Mutchinick O, Muñoz E, Giorgiutti E, Gelman Z. Polydactyly: a genetic study in South America. Am J Hum Genet. 1973;25(4):405-412.
4. W oolf CM, Woolf RM. A genetic study of polydactyly in Utah. Am J Hum Genet. 1970;22(1):75-88.
5. K ozin SH. Upper-extremity congenital anomalies. J Bone Joint Surg Am. 2003;85-A(8):1564-1576.
6. S eok HH, Park JU, Kwon ST. New classification of polydactyly of the foot on the basis of syndactylism, axis deviation, and metatarsal extent of extra digit. Arch Plast Surg. 2013;40(3):232-237.
7. Biesecker LG. Polydactyly: how many disorders and how many genes? 2010 update. Dev Dyn. 2011;240(5):931-942.
8. Temtamy SA, McKusick VA. Syndactyly. The genetics of hand malformations. 1978:301-322.
9. Kucheria K, Kenue RK, Taneja N. An Indian family with postaxial polydactyly in four generations. Clinical genetics. 1981;20(1):36-9.
10. Basit S, Naqvi SK, Ansar M, Ahmad W. Genetic mapping of an autosomal recessive postaxial polydactyly type A to chromosome 13q13. 3–q21. 2 and screening of the candidate genes. Human genetics. 2012;131(3):415-22.
11. Zhou GX, Dai L, Zhu J, Miao L, Wang YP, Liang J, Wu YQ. Epidemiological analysis of polydactylies in Chinese perinatals. Sichuan da xue xue bao. Yi xue ban= Journal of Sichuan University. Medical science edition. 2004;35(5):708-10.
12, Watson BT, Hennrikus WL. Postaxial type-B polydactyly. Prevalence and treatment. JBJS. 1997;79(1):65-8.
13. Umair M, Ahmad F, Bilal M, Ahmad W, Alfadhel M. Clinical genetics of polydactyly: an updated review. Frontiers in genetics. 2018;9:447.
14. Schrauwen I, Giese AP, Aziz A, Lafont DT, Chakchouk I, Santos‐Cortez RL, Lee K, Acharya A, Khan FS, Ullah A, Nickerson DA. FAM92A underlies nonsyndromic postaxial polydactyly in humans and an abnormal limb and digit skeletal phenotype in mice. Journal of Bone and Mineral Research. 2019;34(2):375-86.
15. Malik S. Polydactyly: phenotypes, genetics and classification. Clinical Genetics. 2014;85(3):203-12.
16. Palencia-Campos A, Ullah A, Nevado J, Yıldırım R, Unal E, Ciorraga M, Barruz P, Chico L, Piceci-Sparascio F, Guida V, De Luca A. GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis–van Creveld syndrome. Human Molecular Genetics. 2017;26(23):4556-71.
17. Ventruto V, Theo G, Celona A, Fioretti G, Pagano L, Stabile M, Cavaliere ML. A and B postaxial polydactyly in two members of the same family. Clinical genetics. 1980;18(5):342-7.
18. Radhakrishna U, Wild A, Grzeschik KH, Antonarakis SE. Mutation in GLI3 in postaxial polydactyly type A. Nature genetics. 1997;17(3):269-71.
19. Akarsu AN, Ozbas F, Kostakoglu N. Mapping of the second locus of postaxial polydactyly type A (PAP-A2) to chromosome 13q21-q32. InAmerican Journal of Human Genetics 1997;A265-A265.
20. Zhao H, Tian Y, Breedveld G, Huang S, Zou Y, Jue Y, Chai J, Li H, Li M, Oostra BA, Lo WH. Postaxial polydactyly type A/B (PAP-A/B) is linked to chromosome 19p13. 1-13.2 in a Chinese kindred. European Journal of Human Genetics. 2002;(3):162-6.
21. Galjaard RJ, Smits AP, Tuerlings JH, Bais AG, Avella AM, Breedveld G, de Graaff E, Oostra BA, Heutink P. A new locus for postaxial polydactyly type A/B on chromosome 7q21–q34. European Journal of Human Genetics. 2003;11(5):409-15.
22. Umair M, Alhaddad B, Rafique A, Jan A, Haack TB, Graf E, Ullah A, Ahmad F, Strom TM, Meitinger T, Ahmad W. Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3. Pediatric Research. 2017;82(5):753-8.
23. Castilla E, Paz J, Mutchinick O, Muñoz E, Giorgiutti E, Gelman Z. Polydactyly: a genetic study in South America. American journal of human genetics. 1973;25(4):405.
24. Holmes LB, Nasri H, Hunt AT, Toufaily MH, Westgate MN. Polydactyly, postaxial, type B. Birth defects research. 2018;110(2):134-41.
25. Furniss D, Critchley P, Giele H, Wilkie AO. Nonsense‐mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3. American Journal of Medical Genetics Part A. 2007;143(24):3150-60.
26. Ullah A, Umair M, Shahzad S, Basit S, Ahmad W. Exome sequencing revealed a novel nonsense variant in ALX3 gene underlying frontorhiny. Journal of human genetics. 2018;63(1):97-100.
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