Autosomal Dominant Cataract

01/01/2012 - "A substitution mutation in human αA-crystallin (αAG98R) is associated with autosomal dominant cataract. "
01/05/2011 - "The G98R mutation in αA-crystallin is associated with autosomal dominant cataract in humans. "
01/01/2009 - "Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract."
12/18/2007 - "The G98R mutation in human alphaA-crystallin is associated with autosomal dominant cataract (presenile type). "
03/01/2007 - "Gene conversion mutation in crystallin, beta-B2 (CRYBB2) in a Chilean family with autosomal dominant cataract."

01/01/2018 - "Cx46fs380 mice model a human autosomal dominant cataract caused by a mutant lens connexin. "
01/01/2011 - "These data confirm GJA3 as one of the most frequently mutated genes that underlie autosomal dominant cataract in humans, and further emphasize the importance of connexin function in maintaining lens transparency."
01/01/2013 - "These changes include a homozygous missense change of c.649G>A (Val196Met) in GJA8/connexin 50 (Cx50) in a family with autosomal recessive cataract, two heterozygous missense changes, c.658C>T (Pro199Ser) in GJA8/Cx50 and c.589C>T (Pro197Ser) in GJA3/connexin 46 (Cx46) in two separate families with autosomal dominant cataract, and a silent change ( c.84G>A/p.Val28Val, predicted to result in the creation of a new potential branch point) in GJA8 one family with an autosomal dominant inheritance of cataract. "

09/11/2007 - "A novel mutation in major intrinsic protein of the lens gene (MIP) underlies autosomal dominant cataract in a Chinese family."
04/01/2006 - "Novel single-base deletional mutation in major intrinsic protein (MIP) in autosomal dominant cataract."
04/01/2000 - "Elsewhere, in family ADCC-3, we mapped an autosomal-dominant cataract gene to chromosome 3q21-q22, near the gene that encodes a lens-specific beaded filament protein gene, BFSP2. "
04/01/2006 - "To further elucidate the cataract phenotype, and identify the gene and mutation for autosomal dominant cataract (ADC) in an American family of European descent (ADC2) by sequencing the major intrinsic protein gene (MIP), a candidate based on linkage to chromosome 12q13. "

06/04/2009 - "A heterozygous missense substitution, c.34C>T, in CRYAA, which is responsible for the R12C amino acid change, segregated with autosomal dominant cataract (ADCC) in this family. "
11/01/2013 - "An arginine to cysteine missense mutation at amino acid 33 (R33C) produced congenital autosomal dominant cataract in a Chinese family for five generations. "

07/21/2011 - "A novel gene, TMEM114, was annotated as a member of the claudin gene family and was subsequently associated as a cause of autosomal dominant cataract because of a translocation in its putative promoter. "

01/01/2009 - "This is the third report of a mutation in this exceptional member of the beta-/gamma-crystallin superfamily and further substantiates the genetic and clinical heterogeneity of autosomal dominant cataract."

04/01/2008 - "Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA)."

11/01/2002 - "A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q."

07/01/2008 - "Recently, two individuals were identified with congenital polymorphic autosomal dominant cataract, due to a single nucleotide base deletion mutation in the lens AQP0. "

02/01/2007 - "We investigated a 4-generation French family with autosomal dominant cataract and performed a genetic linkage analysis using microsatellite DNA markers encompassing 15 known cataract loci. "