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• W2893526875 startingPage "881" @default.
• W2893526875 abstract "Absence of part or all of the iris, aniridia, is a feature of several genetically distinct conditions. This review focuses on iris development and then the clinical features and molecular genetics of these iris malformations. Classical aniridia, a panocular eye malformation including foveal hypoplasia, is the archetypal phenotype associated with heterozygous PAX6 loss-of-function mutations. Since this was identified in 1991, many genetic mechanisms of PAX6 inactivation have been elucidated, the commonest alleles being intragenic mutations causing premature stop codons, followed by those causing C-terminal extensions. Rarely, aniridia cases are associated with FOXC1, PITX2 and/or their regulatory regions. Aniridia can also occur as a component of many severe global eye malformations. Gillespie syndrome—a triad of partial aniridia, non-progressive cerebellar ataxia and intellectual disability—is phenotypically and genotypically distinct from classical aniridia. The causative gene has recently been identified as ITPR1. The same characteristic Gillespie syndrome-like iris, with aplasia of the pupillary sphincter and a scalloped margin, is seen in ACTA2-related multisystemic smooth muscle dysfunction syndrome. WAGR syndrome (Wilms tumour, aniridia, genitourinary anomalies and mental retardation/intellectual disability), is caused by contiguous deletion of PAX6 and WT1 on chromosome 11p. Deletions encompassing BDNF have been causally implicated in the obesity and intellectual disability associated with the condition. Lastly, we outline a genetic investigation strategy for aniridia in light of recent developments, suggesting an approach based principally on chromosomal array and gene panel testing. This strategy aims to test all known aniridia loci—including the rarer, life-limiting causes—whilst remaining simple and practical." @default.
• W2893526875 created "2018-10-05" @default.
• W2893526875 creator A5017994471 @default.
• W2893526875 creator A5055650452 @default.
• W2893526875 creator A5083173934 @default.
• W2893526875 date "2018-09-22" @default.
• W2893526875 modified "2023-10-01" @default.
• W2893526875 title "The genetic architecture of aniridia and Gillespie syndrome" @default.
• W2893526875 cites W1475898686 @default.
• W2893526875 cites W1495721376 @default.
• W2893526875 cites W1519512043 @default.
• W2893526875 cites W1523838071 @default.
• W2893526875 cites W1544789027 @default.
• W2893526875 cites W1566190075 @default.
• W2893526875 cites W1584049223 @default.
• W2893526875 cites W1607896501 @default.
• W2893526875 cites W1654401488 @default.
• W2893526875 cites W1737725864 @default.
• W2893526875 cites W1784478130 @default.
• W2893526875 cites W1795781477 @default.
• W2893526875 cites W1837435135 @default.
• W2893526875 cites W1841005193 @default.
• W2893526875 cites W1933799138 @default.
• W2893526875 cites W1964017923 @default.
• W2893526875 cites W1965732593 @default.
• W2893526875 cites W1974011758 @default.
• W2893526875 cites W1974872269 @default.
• W2893526875 cites W1975515226 @default.
• W2893526875 cites W1975931443 @default.
• W2893526875 cites W1977645120 @default.
• W2893526875 cites W1979722180 @default.
• W2893526875 cites W1981182086 @default.
• W2893526875 cites W1984283610 @default.
• W2893526875 cites W1985368139 @default.
• W2893526875 cites W1985828175 @default.
• W2893526875 cites W1988448084 @default.
• W2893526875 cites W1991252317 @default.
• W2893526875 cites W1992110834 @default.
• W2893526875 cites W1992826412 @default.
• W2893526875 cites W1993951035 @default.
• W2893526875 cites W2001358954 @default.
• W2893526875 cites W2002896511 @default.
• W2893526875 cites W2002996311 @default.
• W2893526875 cites W2003473548 @default.
• W2893526875 cites W2004466887 @default.
• W2893526875 cites W2009437340 @default.
• W2893526875 cites W2009514690 @default.
• W2893526875 cites W2011210363 @default.
• W2893526875 cites W2013372950 @default.
• W2893526875 cites W2015615191 @default.
• W2893526875 cites W2017842975 @default.
• W2893526875 cites W2019432665 @default.
• W2893526875 cites W2021278943 @default.
• W2893526875 cites W2021367183 @default.
• W2893526875 cites W2021972893 @default.
• W2893526875 cites W2022057419 @default.
• W2893526875 cites W2024512548 @default.
• W2893526875 cites W2025028196 @default.
• W2893526875 cites W2027886945 @default.
• W2893526875 cites W2031188043 @default.
• W2893526875 cites W2031829815 @default.
• W2893526875 cites W2031994221 @default.
• W2893526875 cites W2032066998 @default.
• W2893526875 cites W2032081479 @default.
• W2893526875 cites W2033090591 @default.
• W2893526875 cites W2035850583 @default.
• W2893526875 cites W2039376144 @default.
• W2893526875 cites W2039508988 @default.
• W2893526875 cites W2039937348 @default.
• W2893526875 cites W2043940967 @default.
• W2893526875 cites W2045399399 @default.
• W2893526875 cites W2049371207 @default.
• W2893526875 cites W2050208487 @default.
• W2893526875 cites W2051293395 @default.
• W2893526875 cites W2054491289 @default.
• W2893526875 cites W2055426186 @default.
• W2893526875 cites W2057726003 @default.
• W2893526875 cites W2058307469 @default.
• W2893526875 cites W2065342575 @default.
• W2893526875 cites W2065398075 @default.
• W2893526875 cites W2066261176 @default.
• W2893526875 cites W2068169950 @default.
• W2893526875 cites W2069133026 @default.
• W2893526875 cites W2070250500 @default.
• W2893526875 cites W2073574276 @default.
• W2893526875 cites W2074892771 @default.
• W2893526875 cites W2075521237 @default.
• W2893526875 cites W2075681146 @default.
• W2893526875 cites W2077858999 @default.
• W2893526875 cites W2081924229 @default.
• W2893526875 cites W2082890033 @default.
• W2893526875 cites W2083975416 @default.
• W2893526875 cites W2084557287 @default.
• W2893526875 cites W2084804604 @default.
• W2893526875 cites W2085016362 @default.
• W2893526875 cites W2090268833 @default.
• W2893526875 cites W2091426442 @default.
• W2893526875 cites W2091858601 @default.

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