Genome-wide linkage and exome sequencing analyses identify an initiation codon mutation of<i>KRT5</i>in a unique Chinese family with generalized Dowling–Degos disease

Li, M; Wang, J; Zhang, J; Ni, Cheng; Li, X; Liang, Jianying; Cheng, Ruhong; Li, Z; Yao, Zhirong

doi:10.1111/bjd.14178

Cited by 9 publications

(12 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Exome capture was based on Agilent SureSelect Human All Exon Kits (Agilent, Santa Clara, CA, USA) according to the manufacturer’s instructions. Sequencing was performed on a HiSeq 2000 platform with read lengths of 100 bp as our previous study reported 6 . Sanger sequencing was used to confirm the candidate mutation identified by WES.…”

Section: Case Reportmentioning

confidence: 99%

Novel mutations in Chinese hypotrichosis simplex patients associated with LSS gene

Hua¹,

Ding

Zhang

et al. 2020

The Journal of Dermatology

View full text Add to dashboard Cite

Hypotrichosis simplex (HS) is a rare form of hereditary alopecia caused by a variety of genetic mutations. Currently, only four studies regarding LSS‐related HS have been reported. In this study, we try to make a definite diagnosis in two unrelated Chinese families with three pediatric patients clinically suspected of HS. Whole‐exome sequencing (WES) was performed for these two families to reveal the pathogenic mutation. WES revealed two different compound heterozygous mutations in LSS in two probands that confirmed the diagnosis, including three novel mutations. In this paper, we describe a new accompanying phenotype of teeth dysplasia in a HS patient. Moreover, we provide a review of all reported LSS mutation‐related patients and infer some potential genotype–phenotype correlations for the first time.

show abstract

Section: Case Reportmentioning

confidence: 99%

Novel mutations in Chinese hypotrichosis simplex patients associated with LSS gene

Hua¹,

Ding

Zhang

et al. 2020

The Journal of Dermatology

View full text Add to dashboard Cite

show abstract

“…There is also a generalized form with hyper‐ and hypopigmented lesions, called generalized DDD (Fig. ), and an acantholytic variant termed Galli‐Galli disease (GGD) …”

Section: The Spectrum Of Dowling‐degos Diseasementioning

confidence: 99%

“…Loss‐of‐function mutations in keratin 5 ( KRT5 ), protein O ‐fucosyltransferase 1 ( POFUT1 ) and protein O ‐glucosyltransferase 1 ( POGLUT1 ), genes that play a crucial role in melanin transport, have been identified as being responsible for a wide spectrum of DDD with distinct phenotypes (i.e. mainly in the flexures or in a generalized distribution; hyper‐ and/or hypopigmented macules; early or late onset; histologically either acantholytic or not) that exhibit genetic and phenotypic heterogeneity (Table S1; see Supporting Information) . Specifically, the flexural form occurs only in patients with mutations in KRT5 ; patients with mutations in POFUT1 show not only flexural distribution, but also involvement of the trunk and acral region, while patients with mutations in POGLUT1 show involvement of the trunk and extremities (Table S1).…”

Section: The Spectrum Of Dowling‐degos Diseasementioning

confidence: 99%

“…and c.2T>G (p.Met1?) have been reported to cause DDD . These mutations were specifically located in the head domain of KRT5 and resulted in haploinsufficiency of keratin 5 .…”

Section: The Spectrum Of Dowling‐degos Diseasementioning

confidence: 99%

“…Among these mutations, three (p.Ser5*, p.Ile140Asnfs*39 and p.Ser148fs*30) cause classic DDD, whereas cases with p.Gln4* and c.2T>G (p.Met1?) show generalized DDD phenotypes (generalized pigmentation plus hypopigmented macules and papules mainly in the trunk and flexures) . Phenotypic variations in the distribution of lesions may depend predominantly on environmental factors and potential modifier genes.Galli‐Galli disease is similarly characterized by reticulate hyperpigmented macules, comedo‐like hyperkeratotic papules mainly of the flexures, and histopathological findings of prominent acantholysis …”

Section: The Spectrum Of Dowling‐degos Diseasementioning

confidence: 99%

See 2 more Smart Citations

Updated review of genetic reticulate pigmentary disorders

Zhang

Yao

2017

Br J Dermatol

Self Cite

View full text Add to dashboard Cite

Reticulate pigmentary disorders are a group of disorders characterized by hyper- and/or hypopigmented macules with varying sizes and amounts of pigment. Some of the disorders are heritable, such as Dowling-Degos disease, dyschromatosis universalis hereditaria, dyschromatosis symmetrica hereditaria, reticulate acropigmentation of Kitamura and X-linked reticulate pigmentary disorder. Although each condition possesses unique phenotypic characteristics and the prognosis for each is somewhat different, there is a large degree of overlap between the disorders and therefore they are difficult to differentiate in the clinical setting. This updated review provides a clinical and molecular delineation of these genetic reticulate pigmentary disorders and aims to establish a concise diagnostic strategy to allow clinical dermatologists to make an accurate diagnosis, as well as to provide useful information for clinical and genetic counselling.

show abstract

Generalized Dowling-Degos disease with an initiation codon mutation of KRT5 mutation

Hsieh

Chao

Lee

2018

Dermatologica Sinica

View full text Add to dashboard Cite

Genome-wide linkage and exome sequencing analyses identify an initiation codon mutation ofKRT5in a unique Chinese family with generalized Dowling–Degos disease

Cited by 9 publications

References 15 publications

Novel mutations in Chinese hypotrichosis simplex patients associated with LSS gene

Novel mutations in Chinese hypotrichosis simplex patients associated with LSS gene

Updated review of genetic reticulate pigmentary disorders

Generalized Dowling-Degos disease with an initiation codon mutation of KRT5 mutation

Contact Info

Product

Resources

About