Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia

Christine Klein; K. Hedrich; K. Kabakçi; K. Mohrmann; K. Wiegers; O. Landt; J. Hagenah; E. Schwinger; P. P. Pramstaller; L. J. Ozelius; K. Gucuyener; S. Aysun; E. Demir

doi:10.1212/01.WNL.0000035629.04791.3F

Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia

Christine Klein^*, K. Hedrich, K. Kabakçi, K. Mohrmann, K. Wiegers, O. Landt, J. Hagenah, E. Schwinger, P. P. Pramstaller, L. J. Ozelius, K. Gucuyener, S. Aysun, E. Demir

^*Corresponding author for this work

32 Citations (Scopus)

Abstract

Most cases of dopa-responsive dystonia (DRD) are thought to be caused by mutations in the GCHI gene; however, by sequencing, mutations are found in only 40% to 60%. Recently, a single report identified, via Southern blot analysis, a large genomic GCHI deletion in a "mutation-negative" case. This report describes four families with DRD, two of which carry large deletions, thus confirming that deletions are an important subtype of GCHI mutations. These deletions were detected by quantitative duplex PCR that is amenable to DNA diagnostics.

Original language	English
Journal	Neurology
Volume	59
Issue number	11
Pages (from-to)	1783-1786
Number of pages	4
ISSN	0028-3878
DOIs	https://doi.org/10.1212/01.WNL.0000035629.04791.3F
Publication status	Published - 10.12.2002

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being
SDG 10 Reduced Inequalities

Access to Document

10.1212/01.WNL.0000035629.04791.3F

Cite this

@article{c14738ab6bf14ab9943602bab143cd2c,

title = "Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia",

abstract = "Most cases of dopa-responsive dystonia (DRD) are thought to be caused by mutations in the GCHI gene; however, by sequencing, mutations are found in only 40\% to 60\%. Recently, a single report identified, via Southern blot analysis, a large genomic GCHI deletion in a {"}mutation-negative{"} case. This report describes four families with DRD, two of which carry large deletions, thus confirming that deletions are an important subtype of GCHI mutations. These deletions were detected by quantitative duplex PCR that is amenable to DNA diagnostics.",

author = "Christine Klein and K. Hedrich and K. Kabak{\c c}i and K. Mohrmann and K. Wiegers and O. Landt and J. Hagenah and E. Schwinger and Pramstaller, \{P. P.\} and Ozelius, \{L. J.\} and K. Gucuyener and S. Aysun and E. Demir",

year = "2002",

month = dec,

day = "10",

doi = "10.1212/01.WNL.0000035629.04791.3F",

language = "English",

volume = "59",

pages = "1783--1786",

journal = "Neurology",

issn = "0028-3878",

publisher = "American Medical Association",

number = "11",

}

TY - JOUR

T1 - Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia

AU - Klein, Christine

AU - Hedrich, K.

AU - Kabakçi, K.

AU - Mohrmann, K.

AU - Wiegers, K.

AU - Landt, O.

AU - Hagenah, J.

AU - Schwinger, E.

AU - Pramstaller, P. P.

AU - Ozelius, L. J.

AU - Gucuyener, K.

AU - Aysun, S.

AU - Demir, E.

PY - 2002/12/10

Y1 - 2002/12/10

N2 - Most cases of dopa-responsive dystonia (DRD) are thought to be caused by mutations in the GCHI gene; however, by sequencing, mutations are found in only 40% to 60%. Recently, a single report identified, via Southern blot analysis, a large genomic GCHI deletion in a "mutation-negative" case. This report describes four families with DRD, two of which carry large deletions, thus confirming that deletions are an important subtype of GCHI mutations. These deletions were detected by quantitative duplex PCR that is amenable to DNA diagnostics.

AB - Most cases of dopa-responsive dystonia (DRD) are thought to be caused by mutations in the GCHI gene; however, by sequencing, mutations are found in only 40% to 60%. Recently, a single report identified, via Southern blot analysis, a large genomic GCHI deletion in a "mutation-negative" case. This report describes four families with DRD, two of which carry large deletions, thus confirming that deletions are an important subtype of GCHI mutations. These deletions were detected by quantitative duplex PCR that is amenable to DNA diagnostics.

UR - https://www.scopus.com/pages/publications/0037058754

U2 - 10.1212/01.WNL.0000035629.04791.3F

DO - 10.1212/01.WNL.0000035629.04791.3F

M3 - Journal articles

C2 - 12473771

AN - SCOPUS:0037058754

SN - 0028-3878

VL - 59

SP - 1783

EP - 1786

JO - Neurology

JF - Neurology

IS - 11

ER -

Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia

Abstract

UN SDGs

Access to Document

Other files and links

Fingerprint

Cite this