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Clinical evaluation of two consanguineous families with homozygous mutations in BEST1

Pineiro-Gallego, Teresa; Alvarez, Maria; Pereiro, Ines; Campos, Severiano; Sharon, Dror; Schatz, Patrik LU and Valverde, Diana (2011) In Molecular Vision 17(179). p.1607-1617
Abstract
Purpose: To describe the clinical and genetic findings in two consanguineous families with Best vitelliform macular dystrophy (BVMD) and homozygous mutations in the bestrophin-1 (BEST1) gene. Methods: Ophthalmologic examination was performed in eight members of two families originating from Spain and Denmark. Mutation screening was performed using the Vitelliform Macular Dystrophy mutation array from Asper Biotech, and by the directed genomic sequencing of BEST1. Results: Two homozygous mutations were detected in these families. Mutation c.936C>A (p.Asp312Glu) has been reported previously in a Danish family; here, we describe four additional individuals in this family demonstrating findings compatible with a severe dominant BVMD, albeit... (More)
Purpose: To describe the clinical and genetic findings in two consanguineous families with Best vitelliform macular dystrophy (BVMD) and homozygous mutations in the bestrophin-1 (BEST1) gene. Methods: Ophthalmologic examination was performed in eight members of two families originating from Spain and Denmark. Mutation screening was performed using the Vitelliform Macular Dystrophy mutation array from Asper Biotech, and by the directed genomic sequencing of BEST1. Results: Two homozygous mutations were detected in these families. Mutation c.936C>A (p.Asp312Glu) has been reported previously in a Danish family; here, we describe four additional individuals in this family demonstrating findings compatible with a severe dominant BVMD, albeit with reduced penetrance in heterozygotes. In the Spanish family, a novel homozygous missense mutation in exon 4, c. 388 C>A (p.Arg130Ser), was identified in the siblings. Homozygous siblings demonstrated evidence of multifocal vitelliform retinopathy, whereas heterozygous family members presented findings ranging from isolated reduction of the electrooculogram Arden ratio to normal values on all clinical parameters. Conclusions: As demonstrated in these consanguineous families, a great clinical variability is associated with homozygous mutations in BEST1, ranging from severe dominant BVMD with reduced penetrance in heterozygotes to autosomal recessive bestrophinopathy. (Less)
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author
organization
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type
Contribution to journal
publication status
published
subject
in
Molecular Vision
volume
17
issue
179
pages
1607 - 1617
publisher
Molecular Vision
external identifiers
  • wos:000292054400001
  • scopus:79959937313
ISSN
1090-0535
language
English
LU publication?
yes
id
683fdfb7-0f20-4e80-80e6-c703f8df7080 (old id 2042219)
alternative location
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3123162/
date added to LUP
2011-08-02 08:59:03
date last changed
2017-06-04 03:50:18
@article{683fdfb7-0f20-4e80-80e6-c703f8df7080,
  abstract     = {Purpose: To describe the clinical and genetic findings in two consanguineous families with Best vitelliform macular dystrophy (BVMD) and homozygous mutations in the bestrophin-1 (BEST1) gene. Methods: Ophthalmologic examination was performed in eight members of two families originating from Spain and Denmark. Mutation screening was performed using the Vitelliform Macular Dystrophy mutation array from Asper Biotech, and by the directed genomic sequencing of BEST1. Results: Two homozygous mutations were detected in these families. Mutation c.936C>A (p.Asp312Glu) has been reported previously in a Danish family; here, we describe four additional individuals in this family demonstrating findings compatible with a severe dominant BVMD, albeit with reduced penetrance in heterozygotes. In the Spanish family, a novel homozygous missense mutation in exon 4, c. 388 C>A (p.Arg130Ser), was identified in the siblings. Homozygous siblings demonstrated evidence of multifocal vitelliform retinopathy, whereas heterozygous family members presented findings ranging from isolated reduction of the electrooculogram Arden ratio to normal values on all clinical parameters. Conclusions: As demonstrated in these consanguineous families, a great clinical variability is associated with homozygous mutations in BEST1, ranging from severe dominant BVMD with reduced penetrance in heterozygotes to autosomal recessive bestrophinopathy.},
  author       = {Pineiro-Gallego, Teresa and Alvarez, Maria and Pereiro, Ines and Campos, Severiano and Sharon, Dror and Schatz, Patrik and Valverde, Diana},
  issn         = {1090-0535},
  language     = {eng},
  number       = {179},
  pages        = {1607--1617},
  publisher    = {Molecular Vision},
  series       = {Molecular Vision},
  title        = {Clinical evaluation of two consanguineous families with homozygous mutations in BEST1},
  volume       = {17},
  year         = {2011},
}