Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
Li Xin ZhangGabrielle LemireClaudia Gonzaga‐JaureguiSirinart MolidpereeCarolina Galaz-MontoyaDavid S. LiuAlain VerloèsAmelle ShillingtonKosuke IzumiAlyssa RitterBeth KeenaElaine H. ZackaiDong LiElizabeth BhojJennifer TarpinianEmma BedoukianMary K. KukolichA. Micheil InnesGrace U. EdiaeSarah L. SawyerKarippoth Mohandas NairPara Chottil SoumyaKinattinkara R. SubbaramanFrank J. ProbstJennifer A. BassettiReid SuttonRichard A. GibbsChester BrownPhilip M. BooneIngrid A. HolmMarco TartagliaGiovanni Battista FerreroMarcello NicetaMaria Lisa DenticiFrancesca Clementina RadioBoris KerenConstance WellsChristine CoubesAnnie LaquerrièreJacqueline AzizaCharlotte DubucsSheela NampoothiriDavid MowatMillan S. PatelAna BrachoFrancisco Cammarata‐ScalisiAlper GezdiriciAlberto Fernández‐JaénNatalie HauserYuri A. ZárateKatherine A. BosankoKlaus DieterichJohn C. CareyJessica X. ChongDeborah A. NickersonMichael J. BamshadBrendan LeeXiang-Jiao YangJames R. LupskiPhilippe M. Campeau
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We report a sporadic case of tetramelic mirror-image polydactyly in combination with unilateral tibial aplasia. No chromosomal or other associated abnormalities were found. The appearance and function of the upper and lower limbs were improved by surgery.
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VARIED EXPRESSIVITY OF “NOTCHED”: Geographic Variation in the Penetrance and Expressivity of the “Notched” Mutation in Drosophila Macrospina Get access SIDNEY MITTLER SIDNEY MITTLER Illinois Institute of Technology Search for other works by this author on: Oxford Academic PubMed Google Scholar Journal of Heredity, Volume 40, Issue 3, March 1949, Pages 59–61, https://doi.org/10.1093/oxfordjournals.jhered.a105988 Published: 01 March 1949
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Abstract Brachyphalangy, polydactyly and tibial aplasia/hypoplasia is a rare autosomal dominant disorder. The present report represents the ninth reported case and only the second case involving a female. She had a characteristic pattern of limb anomalies including agenesis of the tibiae and bilateral preaxial polydactyly of the feet, associated with genital hypoplasia. In addition our patient had wormian bones, a lacrimal sac fistula, an ectopic kidney and an anteriorly placed anus, which are findings not previously described in this condition. © 2009 Wiley‐Liss, Inc.
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Polydactyly, also known as hyperdactyly or hexadactyly is the most common hereditary limb anomaly characterized by extra fingers or toes, with various associated morphologic phenotypes as part of a syndrome (syndromic polydactyly) or may occur as a separate event (non-syndromic polydactyly). Broadly, the non-syndromic polydactyly has been classified into three types, i.e.; preaxial polydactyly (radial), central polydactyly (axial), and postaxial polydactyly (ulnar). Mostly inherited as an autosomal dominant entity with variable penetrance and caused by defects that occur in the anterior-posterior patterning of limb development. In humans, to-date at least 10 loci and six genes causing non-syndromic polydactyly have been identified, including the ZNF141, GLI3, MIPOL1, IQCE, PITX1, and the GLI1. In the present review, clinical, genetic and molecular characterization of the polydactyly types has been presented including the recent genes and loci identified for non-syndromic polydactyly. This review provides an overview of the complex genetic mechanism underlie polydactyly and might help in genetic counseling and quick molecular diagnosis.
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Polydactyly, once regarded as a congenital anomaly, is now regarded as a biological variant following Eurocat classification. The prevalence of polydactyly in many human populations is unknown largely because it was regarded as a congenital anomaly and hence interest was only on birth incidence. The purpose of this study was to determine the prevalence of polydactyly among the Southern Ijaw indigenes of Bayelsa State, Nigeria. One thousand subjects comprising 460 females and 540 males were randomly selected for this study. Subjects were physically screened for presence or absence of polydactyly. Results showed that the population prevalence of polydactyly was 7.5% and shows a higher occurrence in males compared to females. However, gender predilection was not evident at p < 0.05 level of significance. It was concluded that polydactyly, a human morphologic variant, has a high general population prevalence of 90/1000 in the Southern Ijaw indigenes of Bayelsa State, Nigeria. Key words: Morphologic, Variation, Limb-anomalies, Occurrence
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Polydactyly is one of the most common hereditary limb malformations featuring additional digits in hands and/or feet. It constituted the highest proportion among the congenital limb defects in various epidemiological surveys. Polydactyly, primarily presenting as an additional pre‐axial or post‐axial digit of autopod, is a highly heterogeneous condition and depicts broad inter‐ and intra‐familial clinical variability. There is a plethora of polydactyly classification methods reported in the medical literature which approach the heterogeneity in polydactyly in various ways. In this communication, well‐characterized, non‐syndromic polydactylies in humans are reviewed. The cardinal features, phenotypic variability and molecular advances of each type have been presented. Polydactyly at cellular and developmental levels is mainly a failure in the control of digit number. Interestingly, GLI3 and SHH ( ZRS / SHH enhancer), two antagonistic factors known to modulate digit number and identity during development, have also been implicated in polydactyly. Mutations in GLI3 and ZRS / SHH cause overlapping polydactyly phenotypes highlighting shared molecular cascades in the etiology of additional digits, and thus suggesting the lumping of at least six distinct polydactyly entities. However, owing to the extreme phenotypic and clinical heterogeneity witnessed in polydactyly a substantial genetic heterogeneity is expected across different populations and ethnic groups.
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Polydactyly is a malformation during the development of the human limb, which is characterized by the presence of more than the normal number of fingers or toes. It is considered to be one of the most common inherited hand disorders. It can be divided into two major groups: Non-syndromic polydactyly or syndromic polydactyly. According to the anatomical location of the duplicated digits, polydactyly can be generally subdivided into pre-, post-axial, and mesoaxial forms. Non-syndromic polydactyly is often inherited with an autosomal dominant trait and defects during the procedure of anterior-posterior patterning of limb development are incriminated for the final phenotype of the malformation. There are several forms of polydactyly, including hand and foot extra digit manifestations. The deformity affects upper limbs with a higher frequency than the lower, and the left foot is more often involved than the right. The treatment is always surgical. Since the clinical presentation is highly diverse, the treatment combines single or multiple surgical operations, depending on the type of polydactyly. The research attention that congenital limb deformities have recently attracted has resulted in broadening the list of isolated gene mutations associated with the disorders. Next generation sequencing technologies have contributed to the correlation of phenotype and genetic profile of the multiple polydactyly manifestations and have helped in early diagnosis and screening of most non-syndromic and syndromic disorders.
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