Barth syndrome: Clinical features and confirmation of gene localisation to distal Xq28

L. C. Ades; A. K. Gedeon; M. J. Wilson; M. Latham; M. W. Partington; J. C. Mulley; J. Nelson; K. Lui; D. O. Sillence

doi:10.1002/ajmg.1320450309

Barth syndrome: Clinical features and confirmation of gene localisation to distal Xq28

L. C. Ades, A. K. Gedeon, M. J. Wilson, M. Latham, M. W. Partington, J. C. Mulley, J. Nelson, K. Lui, D. O. Sillence

Office of DVC Research

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

98 Citations (Scopus)

Abstract

Barth syndrome is an X-linked disorder characterised by cardioskeletal myopathy of variable severity usually fatal in childhood, and neutropenia. We ascertained a large pedigree with affected males in 3 generations. All affected males had dilated cardiomyopathy, with endocardial fibroelastosis (EFE) in some. The locus for Barth syndrome in this family was found to be closely linked to DXS52 (z = 2.78, θ = 0.0). The family was nonrecombinant for DXS52 in distal Xq28, but recombinant for DXS374 which maps proximal to DXS52. This localised Barth syndrome distal to DXS374, confirming a previous localisation to distal Xq28. As yet there is no evidence for genetic heterogeneity of Barth syndrome.

Original language	English
Pages (from-to)	327-334
Number of pages	8
Journal	American Journal of Medical Genetics
Volume	45
Issue number	3
DOIs	https://doi.org/10.1002/ajmg.1320450309
Publication status	Published - 2 Feb 1993

Access to Document

10.1002/ajmg.1320450309

Cite this

@article{7b7891fd74d7496b9605a8a14788f35f,

title = "Barth syndrome: Clinical features and confirmation of gene localisation to distal Xq28",

abstract = "Barth syndrome is an X-linked disorder characterised by cardioskeletal myopathy of variable severity usually fatal in childhood, and neutropenia. We ascertained a large pedigree with affected males in 3 generations. All affected males had dilated cardiomyopathy, with endocardial fibroelastosis (EFE) in some. The locus for Barth syndrome in this family was found to be closely linked to DXS52 (z = 2.78, θ = 0.0). The family was nonrecombinant for DXS52 in distal Xq28, but recombinant for DXS374 which maps proximal to DXS52. This localised Barth syndrome distal to DXS374, confirming a previous localisation to distal Xq28. As yet there is no evidence for genetic heterogeneity of Barth syndrome.",

keywords = "Barth syndrome, distal Xq28, linkage, neutropenia, short stature, X-linked cardiomyopathy",

author = "Ades, {L. C.} and Gedeon, {A. K.} and Wilson, {M. J.} and M. Latham and Partington, {M. W.} and Mulley, {J. C.} and J. Nelson and K. Lui and Sillence, {D. O.}",

year = "1993",

month = feb,

day = "2",

doi = "10.1002/ajmg.1320450309",

language = "English",

volume = "45",

pages = "327--334",

journal = "American Journal of Medical Genetics Part A",

issn = "0148-7299",

publisher = "Wiley-Liss",

number = "3",

}

TY - JOUR

T1 - Barth syndrome

T2 - Clinical features and confirmation of gene localisation to distal Xq28

AU - Ades, L. C.

AU - Gedeon, A. K.

AU - Wilson, M. J.

AU - Latham, M.

AU - Partington, M. W.

AU - Mulley, J. C.

AU - Nelson, J.

AU - Lui, K.

AU - Sillence, D. O.

PY - 1993/2/2

Y1 - 1993/2/2

N2 - Barth syndrome is an X-linked disorder characterised by cardioskeletal myopathy of variable severity usually fatal in childhood, and neutropenia. We ascertained a large pedigree with affected males in 3 generations. All affected males had dilated cardiomyopathy, with endocardial fibroelastosis (EFE) in some. The locus for Barth syndrome in this family was found to be closely linked to DXS52 (z = 2.78, θ = 0.0). The family was nonrecombinant for DXS52 in distal Xq28, but recombinant for DXS374 which maps proximal to DXS52. This localised Barth syndrome distal to DXS374, confirming a previous localisation to distal Xq28. As yet there is no evidence for genetic heterogeneity of Barth syndrome.

AB - Barth syndrome is an X-linked disorder characterised by cardioskeletal myopathy of variable severity usually fatal in childhood, and neutropenia. We ascertained a large pedigree with affected males in 3 generations. All affected males had dilated cardiomyopathy, with endocardial fibroelastosis (EFE) in some. The locus for Barth syndrome in this family was found to be closely linked to DXS52 (z = 2.78, θ = 0.0). The family was nonrecombinant for DXS52 in distal Xq28, but recombinant for DXS374 which maps proximal to DXS52. This localised Barth syndrome distal to DXS374, confirming a previous localisation to distal Xq28. As yet there is no evidence for genetic heterogeneity of Barth syndrome.

KW - Barth syndrome

KW - distal Xq28

KW - linkage

KW - neutropenia

KW - short stature

KW - X-linked cardiomyopathy

UR - http://www.scopus.com/inward/record.url?scp=0027439920&partnerID=8YFLogxK

U2 - 10.1002/ajmg.1320450309

DO - 10.1002/ajmg.1320450309

M3 - Article

C2 - 8434619

AN - SCOPUS:0027439920

VL - 45

SP - 327

EP - 334

JO - American Journal of Medical Genetics Part A

JF - American Journal of Medical Genetics Part A

SN - 0148-7299

IS - 3

ER -

Barth syndrome: Clinical features and confirmation of gene localisation to distal Xq28

Abstract

Access to Document

Other files and links

Fingerprint

Cite this