3127 Linkage of autosomal dominant iris hypoplasia to the rieger syndrome locus (4q25)
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چکیده
منابع مشابه
3127 Linkage of autosomal dominant iris hypoplasia to the rieger syndrome locus (4q25)
PURPOSE: To assess the effect of change in pupU dianww induced by Tropicamide 0.5% on Snellen acuity and lclrcr cotmast senskivhy tn humans. METHODS: 20 eyes were ~sscssed wth the l'clli-Robson CS char1 and Sncllen chart pn-and posr-dilataGon (Tropicamide O.S%), with luminance kept at between ICUI and 1100 111x. RESULTS: Pupil dilatsdon was found to have lirde effect on SneUcn acuity: 13 eyes m...
متن کاملEvidence that Rieger syndrome maps to 4q25 or 4q27.
We report a baby with the features of Rieger syndrome and a de novo interstitial deletion of 4q which includes band 4q26 and an adjoining GTL light band, either q25 or q27. Rieger syndrome is provisionally mapped to 4q23----q27 but band 4q26 has been excluded as a possible site, suggesting that Rieger syndrome must map to a band, either 4q25 or 4q27, adjoining 4q26.
متن کاملGenetic linkage of a novel autosomal dominant restrictive cardiomyopathy locus.
BACKGROUND In recent years, non-syndromic idiopathic cardiomyopathies have increasingly been characterised as autosomal dominant conditions caused by single gene mutations. Loci have been identified for hypertrophic and dilated cardiomyopathy, and in some cases the same loci are associated with restrictive cardiomyopathy (RCM). In a kindred with RCM that we previously reported, we ruled out the...
متن کاملMutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome.
Axenfeld-Rieger syndrome (ARS) and iridogoniodysgenesis syndrome (IGDS) are clinically related autosomal dominant disorders which affect the anterior segment of the eye as well as non-ocular structures. ARS patients present with iris hypoplasia, a prominent Schwalbe line, adhesions between the iris stroma and the iridocorneal angle and increased intraocular pressure. IGDS is characterized by ir...
متن کاملAutosomal dominant progressive nephropathy with deafness: linkage to a new locus on chromosome 11q24.
Focal segmental glomerulosclerosis (FSGS) and Alport syndrome (AS) are two major causes of end-stage renal disease (ESRD). A few families with autosomal dominant FSGS have been reported with linkage to chromosome 19q13 or 11q22, while AS is usually linked to mutations in type IV collagen (COL4) subunit genes. A phenotype resembling AS may also be seen with myosin heavy chain-9 (MYH9) gene mutat...
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ژورنال
عنوان ژورنال: Vision Research
سال: 1995
ISSN: 0042-6989
DOI: 10.1016/0042-6989(95)90258-9