Prenatal diagnosis of muscle-eye-brain disease

Burcu Balci; Deborah J. Morris-Rosendahl; Asli Çelebi; Beril Talim; Haluk Topaloǧlu; Pervin Dinçer

doi:10.1002/pd.1622

Prenatal diagnosis of muscle-eye-brain disease

Burcu Balci
, Deborah J. Morris-Rosendahl
, Asli Çelebi
, Beril Talim
, Haluk Topaloǧlu
, Pervin Dinçer

Research output: Contribution to journal › Article › peer-review

5 Citations (Scopus)

Abstract

Objectives: To present a family in which it was possible to perform prenatal diagnosis for the recessively inherited muscle-eye-brain disease (MEB) using linkage analysis. Methods: Linkage analysis and direct sequencing of the POMGNT1 gene were carried out in a Turkish MEB family with one affected individual. Fetal DNA was obtained from an ongoing pregnancy by chorionic villus sampling (CVS). Results: Both linkage analysis of the POMGNT1/1p32-p34 region and direct sequencing for the novel familial mutation (R605H) demonstrated that the fetus did not have MEB. Conclusion: We report the first case of prenatal diagnosis in MEB by molecular genetic analysis.

Original language	English
Pages (from-to)	51-54
Number of pages	4
Journal	Prenatal Diagnosis
Volume	27
Issue number	1
DOIs	https://doi.org/10.1002/pd.1622
Publication status	Published - Jan 2007

Keywords

Muscle-eye-brain disease
Novel mutation
POMGNT1
Prenatal diagnosis

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title = "Prenatal diagnosis of muscle-eye-brain disease",

abstract = "Objectives: To present a family in which it was possible to perform prenatal diagnosis for the recessively inherited muscle-eye-brain disease (MEB) using linkage analysis. Methods: Linkage analysis and direct sequencing of the POMGNT1 gene were carried out in a Turkish MEB family with one affected individual. Fetal DNA was obtained from an ongoing pregnancy by chorionic villus sampling (CVS). Results: Both linkage analysis of the POMGNT1/1p32-p34 region and direct sequencing for the novel familial mutation (R605H) demonstrated that the fetus did not have MEB. Conclusion: We report the first case of prenatal diagnosis in MEB by molecular genetic analysis.",

keywords = "Muscle-eye-brain disease, Novel mutation, POMGNT1, Prenatal diagnosis",

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doi = "10.1002/pd.1622",

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journal = "Prenatal Diagnosis",

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T1 - Prenatal diagnosis of muscle-eye-brain disease

AU - Balci, Burcu

AU - Morris-Rosendahl, Deborah J.

AU - Çelebi, Asli

AU - Talim, Beril

AU - Topaloǧlu, Haluk

AU - Dinçer, Pervin

PY - 2007/1

Y1 - 2007/1

N2 - Objectives: To present a family in which it was possible to perform prenatal diagnosis for the recessively inherited muscle-eye-brain disease (MEB) using linkage analysis. Methods: Linkage analysis and direct sequencing of the POMGNT1 gene were carried out in a Turkish MEB family with one affected individual. Fetal DNA was obtained from an ongoing pregnancy by chorionic villus sampling (CVS). Results: Both linkage analysis of the POMGNT1/1p32-p34 region and direct sequencing for the novel familial mutation (R605H) demonstrated that the fetus did not have MEB. Conclusion: We report the first case of prenatal diagnosis in MEB by molecular genetic analysis.

AB - Objectives: To present a family in which it was possible to perform prenatal diagnosis for the recessively inherited muscle-eye-brain disease (MEB) using linkage analysis. Methods: Linkage analysis and direct sequencing of the POMGNT1 gene were carried out in a Turkish MEB family with one affected individual. Fetal DNA was obtained from an ongoing pregnancy by chorionic villus sampling (CVS). Results: Both linkage analysis of the POMGNT1/1p32-p34 region and direct sequencing for the novel familial mutation (R605H) demonstrated that the fetus did not have MEB. Conclusion: We report the first case of prenatal diagnosis in MEB by molecular genetic analysis.

KW - Muscle-eye-brain disease

KW - Novel mutation

KW - POMGNT1

KW - Prenatal diagnosis

UR - https://www.scopus.com/pages/publications/33846457338

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DO - 10.1002/pd.1622

M3 - Article

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AN - SCOPUS:33846457338

SN - 0197-3851

VL - 27

SP - 51

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JO - Prenatal Diagnosis

JF - Prenatal Diagnosis

IS - 1

ER -

Prenatal diagnosis of muscle-eye-brain disease

Abstract

Keywords

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