Literature DB >> 20149343

Preimplantation genetic diagnosis for stargardt disease.

Mahsa A Sohrab1, Rando Allikmets, Michael M Guarnaccia, R Theodore Smith.   

Abstract

PURPOSE: To report the first use of in vitro fertilization (IVF) and preimplantation genetic diagnosis to achieve an unaffected pregnancy in an autosomal-recessive retinal dystrophy.
DESIGN: Case report.
METHODS: An affected male with Stargardt disease and his carrier wife underwent IVF. Embryos obtained by intracytoplasmic sperm injection underwent single-cell DNA testing via polymerase chain reaction and restriction enzyme analysis to detect the presence of ABCA4 mutant alleles. Embryos were diagnosed as being either affected by or carriers for Stargardt disease. A single carrier embryo was implanted.
RESULTS: Chorionic villus sampling performed during the first trimester verified that the fetus possessed only 1 mutant paternal allele and 1 normal maternal allele, thus making her an unaffected carrier of the disease. A healthy, live-born female was delivered.
CONCLUSION: IVF and preimplantation genetic diagnosis can assist couples with an affected spouse and a carrier spouse with recessive retinal dystrophies to have an unaffected child. Copyright 2010 Elsevier Inc. All rights reserved.

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Year:  2010        PMID： 20149343      PMCID： PMC2886672          DOI： 10.1016/j.ajo.2009.11.029

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN： 0002-9394            Impact factor:   5.258


  17 in total

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3.  Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR.

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4.  Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.

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5.  A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.

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6.  New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease.

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7.  Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients.

Authors:  A Fumagalli; M Ferrari; N Soriani; A Gessi; B Foglieni; E Martina; M P Manitto; R Brancato; M Dean; R Allikmets; L Cremonesi
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8.  Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.

Authors:  K Jaakson; J Zernant; M Külm; A Hutchinson; N Tonisson; D Glavac; M Ravnik-Glavac; M Hawlina; M R Meltzer; R C Caruso; F Testa; A Maugeri; C B Hoyng; P Gouras; F Simonelli; R A Lewis; J R Lupski; F P M Cremers; R Allikmets
Journal:  Hum Mutat       Date:  2003-11       Impact factor: 4.878

9.  A YAC contig encompassing the recessive Stargardt disease gene (STGD) on chromosome 1p.

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Journal:  Am J Hum Genet       Date:  1995-12       Impact factor: 11.025

10.  Preimplantation genetic diagnosis for retinoblastoma: the first reported liveborn.

Authors:  Kangpu Xu; Zev Rosenwaks; Katherine Beaverson; Ina Cholst; Lucinda Veeck; David H Abramson
Journal:  Am J Ophthalmol       Date:  2004-01       Impact factor: 5.258
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2.  Understanding the impact of genetic testing for inherited retinal dystrophy.

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