Localisation of the gene for X-linked reticulate pigmentary disorder with systemic manifestations (PDR), previously known as X-linked cutaneous amyloidosis

A. K. Gedeon, J. C. Mulley, H. Kozman, A. Donnelly, M. W. Partington

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

X-linked reticulate pigmentary disorder (PDR), previously reported as X- linked cutaneous amyloidosis (MIM 301220), is characterized by brown pigmentation of the skin which follows the lines of Blaschko in females but appears as reticulate sheets in males. Males may suffer severe gastrointestinal disorders in infancy with failure to thrive and early death. Nowadays symptomatic treatment allows survival and other manifestations may appear such as corneal dystrophy with severe photophobia or chronic respiratory disease. Amyloid deposition in the skin may be no more than an age-dependent secondary manifestation. The PDR gene was localised by linkage analysis to Xp21-p22. The background genetic map is Xpter-DXS996-22.5- DXS207-3.3-DXS999-3.3-DXS365-14.2-DXS989-4.1-3'DMD-3.5-DXS997-1.0-STR44-9.3- DYSI-2.3-DXS1068-11.0-DXS228 with distances between markers given in cM. Recombinants detected with DXS999 distally and DXS228 proximally, define the limits to the localisation. Linkage was found with several markers within this interval. Peak lod scores of 3.21 at θ = 0.0 were obtained between PDR and DXS989 and between PDR and 5'DYSI within the dystrophin locus.

Original languageEnglish
Pages (from-to)75-78
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume52
Issue number1
DOIs
Publication statusPublished - 1 Aug 1994
Externally publishedYes

Fingerprint

X-Linked Genes
Amyloidosis
Skin Pigmentation
Lod Score
Failure to Thrive
Photophobia
Dystrophin
Skin
Amyloid
Chronic Disease
Genes
Pigmentary Disorder, Reticulate, with Systemic Manifestations
Genetic Background

Cite this

@article{775086abcd4544ec9051f8cd3a48b33c,
title = "Localisation of the gene for X-linked reticulate pigmentary disorder with systemic manifestations (PDR), previously known as X-linked cutaneous amyloidosis",
abstract = "X-linked reticulate pigmentary disorder (PDR), previously reported as X- linked cutaneous amyloidosis (MIM 301220), is characterized by brown pigmentation of the skin which follows the lines of Blaschko in females but appears as reticulate sheets in males. Males may suffer severe gastrointestinal disorders in infancy with failure to thrive and early death. Nowadays symptomatic treatment allows survival and other manifestations may appear such as corneal dystrophy with severe photophobia or chronic respiratory disease. Amyloid deposition in the skin may be no more than an age-dependent secondary manifestation. The PDR gene was localised by linkage analysis to Xp21-p22. The background genetic map is Xpter-DXS996-22.5- DXS207-3.3-DXS999-3.3-DXS365-14.2-DXS989-4.1-3'DMD-3.5-DXS997-1.0-STR44-9.3- DYSI-2.3-DXS1068-11.0-DXS228 with distances between markers given in cM. Recombinants detected with DXS999 distally and DXS228 proximally, define the limits to the localisation. Linkage was found with several markers within this interval. Peak lod scores of 3.21 at θ = 0.0 were obtained between PDR and DXS989 and between PDR and 5'DYSI within the dystrophin locus.",
keywords = "cutaneous amyloidosis, lines of Blaschko, skin pigmentation, X-linked reticulate pigmentary disorder",
author = "Gedeon, {A. K.} and Mulley, {J. C.} and H. Kozman and A. Donnelly and Partington, {M. W.}",
year = "1994",
month = "8",
day = "1",
doi = "10.1002/ajmg.1320520115",
language = "English",
volume = "52",
pages = "75--78",
journal = "Am J Med Genet A",
issn = "0148-7299",
publisher = "Wiley-Liss",
number = "1",

}

Localisation of the gene for X-linked reticulate pigmentary disorder with systemic manifestations (PDR), previously known as X-linked cutaneous amyloidosis. / Gedeon, A. K.; Mulley, J. C.; Kozman, H.; Donnelly, A.; Partington, M. W.

In: American Journal of Medical Genetics, Vol. 52, No. 1, 01.08.1994, p. 75-78.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Localisation of the gene for X-linked reticulate pigmentary disorder with systemic manifestations (PDR), previously known as X-linked cutaneous amyloidosis

AU - Gedeon, A. K.

AU - Mulley, J. C.

AU - Kozman, H.

AU - Donnelly, A.

AU - Partington, M. W.

PY - 1994/8/1

Y1 - 1994/8/1

N2 - X-linked reticulate pigmentary disorder (PDR), previously reported as X- linked cutaneous amyloidosis (MIM 301220), is characterized by brown pigmentation of the skin which follows the lines of Blaschko in females but appears as reticulate sheets in males. Males may suffer severe gastrointestinal disorders in infancy with failure to thrive and early death. Nowadays symptomatic treatment allows survival and other manifestations may appear such as corneal dystrophy with severe photophobia or chronic respiratory disease. Amyloid deposition in the skin may be no more than an age-dependent secondary manifestation. The PDR gene was localised by linkage analysis to Xp21-p22. The background genetic map is Xpter-DXS996-22.5- DXS207-3.3-DXS999-3.3-DXS365-14.2-DXS989-4.1-3'DMD-3.5-DXS997-1.0-STR44-9.3- DYSI-2.3-DXS1068-11.0-DXS228 with distances between markers given in cM. Recombinants detected with DXS999 distally and DXS228 proximally, define the limits to the localisation. Linkage was found with several markers within this interval. Peak lod scores of 3.21 at θ = 0.0 were obtained between PDR and DXS989 and between PDR and 5'DYSI within the dystrophin locus.

AB - X-linked reticulate pigmentary disorder (PDR), previously reported as X- linked cutaneous amyloidosis (MIM 301220), is characterized by brown pigmentation of the skin which follows the lines of Blaschko in females but appears as reticulate sheets in males. Males may suffer severe gastrointestinal disorders in infancy with failure to thrive and early death. Nowadays symptomatic treatment allows survival and other manifestations may appear such as corneal dystrophy with severe photophobia or chronic respiratory disease. Amyloid deposition in the skin may be no more than an age-dependent secondary manifestation. The PDR gene was localised by linkage analysis to Xp21-p22. The background genetic map is Xpter-DXS996-22.5- DXS207-3.3-DXS999-3.3-DXS365-14.2-DXS989-4.1-3'DMD-3.5-DXS997-1.0-STR44-9.3- DYSI-2.3-DXS1068-11.0-DXS228 with distances between markers given in cM. Recombinants detected with DXS999 distally and DXS228 proximally, define the limits to the localisation. Linkage was found with several markers within this interval. Peak lod scores of 3.21 at θ = 0.0 were obtained between PDR and DXS989 and between PDR and 5'DYSI within the dystrophin locus.

KW - cutaneous amyloidosis

KW - lines of Blaschko

KW - skin pigmentation

KW - X-linked reticulate pigmentary disorder

UR - http://www.scopus.com/inward/record.url?scp=0028101847&partnerID=8YFLogxK

U2 - 10.1002/ajmg.1320520115

DO - 10.1002/ajmg.1320520115

M3 - Article

VL - 52

SP - 75

EP - 78

JO - Am J Med Genet A

JF - Am J Med Genet A

SN - 0148-7299

IS - 1

ER -