Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly
نویسندگان
چکیده
منابع مشابه
Autosomal recessive postaxial polydactyly type A in a Sicilian family.
Postaxial polydactyly type A was present in several members of a Sicilian family. The anomaly was probably transmitted as an autosomal recessive character. Two polydactylous subjects were also beta-thalassaemia carriers, but a linkage between the two mutant genes could be excluded. Two patients with hexadactyly had a fifth digital triradius.
متن کاملWhole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A.
BACKGROUND Postaxial polydactyly (PAP) type A is characterised by well-formed functionally developed 5th digit duplication in hands and/or feet. It is genetically heterogeneous condition, inherited both in autosomal recessive and dominant manners. To date one autosomal recessive and four autosomal dominant loci have been mapped on human chromosomes. In the present study we have investigated a c...
متن کاملPostaxial polydactyly in three Indian families.
In most of the reported pedigrees on human polydactyly, the manifestation of the trait has been attributed to a single autosomal dominant gene. That this gene is not always penetrant and exhibits a great degree of variable expressibility has been stressed by various authors (listed by Gates, 1946, and McKusick, 1966). By contrast, recessive polydactyly has been described by only a few authors (...
متن کاملBiallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis.
PURPOSE To identify the genetic cause of autosomal recessive familial foveal retinoschisis (FFR). METHODS A female sibship with FFR was identified (Family-A; 17 and 16 years, respectively); panel based genetic sequencing (132 genes) and comparative genome hybridization (142 genes) were performed. Whole-exome sequencing (WES) was performed on both siblings using the Illumina-HiSeq-2500 platfor...
متن کاملA WAGR Syndrome Case with Postaxial Polydactyly
The WAGR contiguous gene deletion syndrome is a combination of Wilms tumor, Aniridia, Genito-urinary abnormalities, and growth and mental Retardation which is invariably associated with an 11p13 deletion. This deletion included the PAX6 and WT1 genes as previously reported in typical WAGR patients. Ocular defects result from hemizygosity for the PAX6 gene. Urogenital and renal abnormalities and...
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ژورنال
عنوان ژورنال: Human Genetics
سال: 2019
ISSN: 0340-6717,1432-1203
DOI: 10.1007/s00439-019-02000-0