Genetic mapping of an autosomal recessive postaxial polydactyly type A to chromosome 13q13.3–q21.2 and screening of the candidate genes

2011 ◽  
Vol 131 (3) ◽  
pp. 415-422 ◽  
Author(s):  
Umm-e-Kalsoom ◽  
Sulman Basit ◽  
Syed Kamran-ul-Hassan Naqvi ◽  
Muhammad Ansar ◽  
Wasim Ahmad
Keyword(s):  
Genetic Mapping ◽  
Candidate Genes ◽  
Autosomal Recessive ◽  
Type A ◽  
Postaxial Polydactyly

scholarly journals Identification of Genes involved in Postaxial Polydactyly, Sample of FATA territory, Pakistan

2018 ◽  
Vol 1 (1) ◽  
pp. 20-31
Author(s):  
Shadman Khan ◽  
Abdul Jamil ◽  
Haroon Khan
Keyword(s):  
Genetic Mapping ◽  
Microsatellite Markers ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Type A ◽  
Pakistani Family ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Postaxial Polydactyly ◽  
Extra Digit

Postaxial Polydactyly (PAP) is characterized by fifth digit duplication in hands and/or feet. Two types of PAP including PAP-A, representing the development of well-formed extra digit, and PAP-B, representing the presence of rudimentary fifth digit, have been described. Both isolated and syndromic forms of PAP have been reported. Isolated forms of PAP usually segregate as an autosomal dominant trait and to date four loci have been identified. In the present study, we have described mapping of the first locus of autosomal recessive PAP type A on chromosome 13q13.3–13q21.2 in a consanguineous Pakistani family. In family with autosomal dominant forms of postaxial polydactyly, most of the affected individuals exhibit features representing type A PAP (Zhao et al.,2002; Galjaardet et al.,2003). In the respected family mapped on chromosome 13q13.3– 13q21.2, affected individuals showed the additional features of postaxial polydactyly.Several locus of causative genes are involved in this disease. To check the specified locus we use several microsatellite markers (D13S1246, D13S218, D13S1288, D13S1233, D13S263, D13S1312, D13S153, D13S328, D13S119, D13S632, D13S889,D4S90, D4S2936, D4S111, D4S43, D4S16114, D4S95, D4S127, D4S126, D4S179, D4S432, D4S2957, D4S431, D4S2366, D4S2935, D4S3007, D4S412, D4S3023, D4S2285 ). All the affected individuals showed no homozygosity. Genetic mapping of all the affected individuals showed that noval genes are responsible for the disease. In future, we will work on and try to find out the causative genes.

scholarly journals Autosomal recessive postaxial polydactyly type A in a Sicilian family.

1978 ◽  
Vol 15 (3) ◽  
pp. 212-216 ◽  
Author(s):  
F Mollica ◽  
S L Volti ◽  
G Sorge
Keyword(s):  
Autosomal Recessive ◽  
Type A ◽  
Postaxial Polydactyly

scholarly journals Whole exome sequencing identified a novel zinc-finger geneZNF141associated with autosomal recessive postaxial polydactyly type A

2012 ◽  
Vol 50 (1) ◽  
pp. 47-53 ◽  
Author(s):  
Umm-e- Kalsoom ◽  
Eva Klopocki ◽  
Naveed Wasif ◽  
Muhammad Tariq ◽  
Saadullah Khan ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Zinc Finger ◽  
Autosomal Recessive ◽  
Type A ◽  
Postaxial Polydactyly ◽  
Whole Exome

Biallelic variant in DACH1, encoding Dachshund Homolog 1, defines a novel candidate locus for recessive postaxial polydactyly type A

Genomics ◽  
2021 ◽  
Author(s):  
Muhammad Umair ◽  
Oliva Palander ◽  
Muhammad Bilal ◽  
Bader Almuzzaini ◽  
Qamre Alam ◽  
...  
Keyword(s):  
Type A ◽  
Candidate Locus ◽  
Postaxial Polydactyly

Pierquin Syndrome: Report of a New Case

2020 ◽  
Author(s):  
Francisco Cammarata-Scalisi ◽  
Colin Eric Willoughby ◽  
María Angelina Lacruz- Rengel ◽  
Enrico Silvio Bertini ◽  
Michele Callea
Keyword(s):  
Congenital Heart ◽  
Autosomal Recessive ◽  
Malformation Syndrome ◽  
Postaxial Polydactyly ◽  
Phenotypic Spectrum ◽  
Dandy Walker Malformation ◽  
Rare Malformation ◽  
Walker Malformation ◽  
Genetic Entity ◽  
Syndrome Report

AbstractPierquin syndrome is a rare genetic entity characterized by the association of Dandy–Walker malformation and postaxial polydactyly. The incidence is uncertain with only six cases previously reported in the literature. In this study, we reported a new case of Pierquin syndrome born from consanguineous parents, characterized by Dandy–Walker malformation, postaxial polydactyly, and congenital heart disease. The case reinforces an autosomal recessive modality of inheritance and expands the phenotypic spectrum of this rare malformation syndrome.

scholarly journals Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome

2011 ◽  
Vol 80 (4) ◽  
pp. 389-396 ◽  
Author(s):  
Simone Sanna-Cherchi ◽  
Katelyn E. Burgess ◽  
Shannon N. Nees ◽  
Gianluca Caridi ◽  
Patricia L. Weng ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Exome Sequencing ◽  
Candidate Genes ◽  
Autosomal Recessive ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome
Sign in / Sign up

Export Citation Format

Share Document