A novel heterozygous nonsense mutation of keratin 5 in a chinese family with Dowling–Degos disease

Guo, Liting; Luo, Xingzhang; Zhao, Aizhi; Huang, Haoran; Wei, Zengxin; Chen, L; Qin, Shengying; Shao, Li‐Hua; Xuan, Jiekun; Gao, Feng; Minghua, C; Luan, Jing; He, Lin; Xing, Qinghe

doi:10.1111/j.1468-3083.2011.04115.x

Cited by 16 publications

(18 citation statements)

References 10 publications

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“…The detection of this mutation not only in DDD[7] but also in GGD patients gives further confirmation for our hypothesis that GGD is a variant of DDD. [1] In addition, so far there have not been any reports on GGD with hypopigmentation where detection of a mutation in the KRT5 gene has been possible.…”

Section: Resultssupporting

confidence: 74%

“…[7] Wu and Lin published a family with reticular hyperpigmentation and hypopigmented macules with DDD with some biopsies showing features on histopathology in accordance with GGD, however, a mutation in KRT5 could not be detected. [8]…”

Section: Resultsmentioning

confidence: 99%

“…[78] Guo et al . reported on a Chinese family with DDD exhibiting hypopigmented macules along with the well-known typical clinical and histopathological features of DDD and identified a novel heterozygous nonsense mutation, c.10C > T, in exon 1 of KRT5 .…”

Section: Introductionmentioning

confidence: 99%

“…reported on a Chinese family with DDD exhibiting hypopigmented macules along with the well-known typical clinical and histopathological features of DDD and identified a novel heterozygous nonsense mutation, c.10C > T, in exon 1 of KRT5 . [7] Wu and Lin presented three patients from one family with clinical and histological DDD along with hypopigmented macules; the histopathological evaluation in one of their patients in papules from the axillary region had features of Galli-Galli disease, however, they did not detect any mutation in KRT5 . [8] However, recently, another gene was identified for DDD in two Chinese families, called POFUT1 , encoding protein O-fucosyltransferase 1 (Li et al .…”

Section: Introductionmentioning

confidence: 99%

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The first report of krt5 mutation underlying acantholytic dowling-degos disease with mottled hypopigmentation in an Indian family

Verma¹,

Pasternack

Rütten

et al. 2014

Indian J Dermatol

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Galli Galli disease (GGD) is the name given to a rare form of acantholytic Dowling-Degos disease. (DDD), the latter itself being a rare condition. We believe we are describing for the first time in Indian dermatologic literature a case of GGD in a family where 25 persons have DDD and have been able to document a KRT5 mutation in four members of the family. Whereas reticulate pigmentation is a hallmark of DDD there are rare reports of mottled pigmentation with multiple asymptomatic hypopigmented macules scattered diffusely along with the pigmentation. All the cases described here show a mottled pigmentation comprising hypo and hyperpigmented asymptomatic macules. After the clinical diagnosis was made by one of the authors (SV) in India, the German authors repeated histological examination and successfully demonstrated a heterozygous nonsense mutation, c.C10T (p.Gln4X), in exon 1 of the KRT5 gene, from various centers in Munich, Bonn, Dusseldorf and Friedrichschafen in Germany.

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Section: Resultssupporting

confidence: 74%

Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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The first report of krt5 mutation underlying acantholytic dowling-degos disease with mottled hypopigmentation in an Indian family

Verma¹,

Pasternack

Rütten

et al. 2014

Indian J Dermatol

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“…4 Additional mutations in KRT5 responsible for DDD were also reported. [5][6][7][8] In subsequent years, we screened more than 40 individuals with DDD and found KRT5 mutations in fewer than 50%, with only 16 simplex and familial cases. 9,10 Thus, the causes of a large number of unsolved cases of DDD remain to be explained.…”

Section: Dowling-degos Disease (Ddd [Mim 179850 Mim 615327])mentioning

confidence: 99%

Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease

Basmanav

Oprişoreanu

Pasternack

et al. 2014

The American Journal of Human Genetics

140

153

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Dowling-Degos disease (DDD) is an autosomal-dominant genodermatosis characterized by progressive and disfiguring reticulate hyperpigmentation. We previously identified loss-of-function mutations in KRT5 but were only able to detect pathogenic mutations in fewer than half of our subjects. To identify additional causes of DDD, we performed exome sequencing in five unrelated affected individuals without mutations in KRT5. Data analysis identified three heterozygous mutations from these individuals, all within the same gene. These mutations, namely c.11G>A (p.Trp4*), c.652C>T (p.Arg218*), and c.798-2A>C, are within POGLUT1, which encodes protein O-glucosyltransferase 1. Further screening of unexplained cases for POGLUT1 identified six additional mutations, as well as two of the above described mutations. Immunohistochemistry of skin biopsies of affected individuals with POGLUT1 mutations showed significantly weaker POGLUT1 staining in comparison to healthy controls with strong localization of POGLUT1 in the upper parts of the epidermis. Immunoblot analysis revealed that translation of either wild-type (WT) POGLUT1 or of the protein carrying the p.Arg279Trp substitution led to the expected size of about 50 kDa, whereas the c.652C>T (p.Arg218*) mutation led to translation of a truncated protein of about 30 kDa. Immunofluorescence analysis identified a colocalization of the WT protein with the endoplasmic reticulum and a notable aggregating pattern for the truncated protein. Recently, mutations in POFUT1, which encodes protein O-fucosyltransferase 1, were also reported to be responsible for DDD. Interestingly, both POGLUT1 and POFUT1 are essential regulators of Notch activity. Our results furthermore emphasize the important role of the Notch pathway in pigmentation and keratinocyte morphology.

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Inherited and Acquired Hyperpigmentation

Castelo‐Soccio

Perlmutter

2019

Harper's Textbook of Pediatric Dermatology

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A novel heterozygous nonsense mutation of keratin 5 in a chinese family with Dowling–Degos disease

Abstract: Our data expand the spectrum of mutations in the KRT5 gene underlying DDD.

Cited by 16 publications

References 10 publications

The first report of krt5 mutation underlying acantholytic dowling-degos disease with mottled hypopigmentation in an Indian family

The first report of krt5 mutation underlying acantholytic dowling-degos disease with mottled hypopigmentation in an Indian family

Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease

Inherited and Acquired Hyperpigmentation

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