scholarly journals A novel keratin 13 variant in a four-generation family with white sponge nevus

2017 ◽  
Vol 5 (9) ◽  
pp. 1503-1509 ◽  
Author(s):  
Stephanie B. de Haseth ◽  
Egbert Bakker ◽  
Maarten H. Vermeer ◽  
Hakima el Idrissi ◽  
Tjalling Bosse ◽  
...  
Keyword(s):  
Generation Family ◽  
Keratin 13 ◽  
White Sponge Nevus

White sponge nevus: report of a three-generation family

2007 ◽  
Vol 103 (1) ◽  
pp. 43-47 ◽  
Author(s):  
Hercílio Martelli ◽  
Samantha Mourão Pereira ◽  
Thábata Martins Rocha ◽  
Paulo Luis Antônio Nogueira dos Santos ◽  
Alfredo Maurício Batista de Paula ◽  
...  
Keyword(s):  
Generation Family ◽  
White Sponge Nevus

A Novel Mutation in the Keratin 13 Gene Causing Oral White Sponge Nevus

2001 ◽  
Vol 80 (3) ◽  
pp. 919-923 ◽  
Author(s):  
A. Terrinoni ◽  
E.L. Rugg ◽  
E.B. Lane ◽  
G. Melino ◽  
D.H. Felix ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Keratin 13 ◽  
White Sponge Nevus

Constitutional mutation of keratin 13 gene in familial white sponge nevus

2003 ◽  
Vol 96 (5) ◽  
pp. 561-565 ◽  
Author(s):  
Yasuyuki Shibuya ◽  
Jianming Zhang ◽  
Satoshi Yokoo ◽  
Masahiro Umeda ◽  
Takahide Komori
Keyword(s):  
Keratin 13 ◽  
White Sponge Nevus

Mutations in the genes for keratin-4 and keratin-13 in Swedish patients with white sponge nevus

2017 ◽  
Vol 47 (2) ◽  
pp. 152-157 ◽  
Author(s):  
Maria Westin ◽  
Elham Rekabdar ◽  
Lena Blomstrand ◽  
Per Klintberg ◽  
Mats Jontell ◽  
...  
Keyword(s):  
Keratin 13 ◽  
White Sponge Nevus

scholarly journals Keratin 13 mutations associated with oral white sponge nevus in two Chinese families

Meta Gene ◽  
2014 ◽  
Vol 2 ◽  
pp. 374-383 ◽  
Author(s):  
Wenping Cai ◽  
Zhenghu Chen ◽  
Beizhan Jiang ◽  
Fang Yu ◽  
Ping Xu ◽  
...  
Keyword(s):  
Chinese Families ◽  
Keratin 13 ◽  
White Sponge Nevus

scholarly journals Keratin 13 point mutation underlies the hereditary mucosal epithelia disorder white sponge nevus

1995 ◽  
Vol 11 (4) ◽  
pp. 453-455 ◽  
Author(s):  
Gabriela Richard ◽  
Vincenzo De Laurenzi ◽  
Biagio Didona ◽  
Sherri J. Bale ◽  
John G. Compton
Keyword(s):  
Point Mutation ◽  
Keratin 13 ◽  
White Sponge Nevus

Current approaches to the diagnosis and treatment of white sponge nevus

2015 ◽  
Vol 17 ◽  
Author(s):  
Wenping Cai ◽  
Beizhan Jiang ◽  
Fang Yu ◽  
Jianhua Yang ◽  
Zhenghu Chen ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Animal Models ◽  
Oral Mucosa ◽  
Genetic Disease ◽  
Recent Progress ◽  
Autosomal Dominant ◽  
Future Directions ◽  
Keratin 13 ◽  
Near Future ◽  
White Sponge Nevus

White sponge nevus (WSN) in the oral mucosa is a rare autosomal dominant genetic disease. The involved mucosa is white or greyish, thickened, folded and spongy. The genes associated with WSN include mutant cytokeratin keratin 4 (KRT4) and keratin 13 (KRT13). In recent years, new cases of WSN and associated mutations have been reported. Here, we summarise the recent progress in our understanding of WSN, including clinical reports, genetics, animal models, treatment, pathogenic mechanisms and future directions. Gene-based diagnosis and gene therapy for WSN may become available in the near future and could provide a reference and instruction for treating other KRT-associated diseases.

scholarly journals Keratin 13 deficiency causes white sponge nevus in mice

2020 ◽  
Vol 468 (1-2) ◽  
pp. 146-153
Author(s):  
Laura Simonson ◽  
Samantha Vold ◽  
Colton Mowers ◽  
Randall J. Massey ◽  
Irene M. Ong ◽  
...  
Keyword(s):  
Keratin 13 ◽  
White Sponge Nevus

scholarly journals Heterogeneity of the Clinical Presentation of the MEN1 LRG_509 c.781C>T (p.Leu261Phe) Variant Within a Three-Generation Family

Genes ◽  
2021 ◽  
Vol 12 (4) ◽  
pp. 512
Author(s):  
Aleksandra Gilis-Januszewska ◽  
Anna Bogusławska ◽  
Kornelia Hasse-Lazar ◽  
Beata Jurecka-Lubieniecka ◽  
Barbara Jarząb ◽  
...  
Keyword(s):  
Neuroendocrine Tumor ◽  
Clinical Presentation ◽  
Age Of Onset ◽  
Malignant Tumors ◽  
Genetic Disorder ◽  
Family Members ◽  
Pancreatic Neuroendocrine Tumor ◽  
Index Patient ◽  
Generation Family

Multiple neuroendocrine neoplasia type 1 (MEN1) is a rare genetic disorder with an autosomal dominant inheritance, predisposing carriers to benign and malignant tumors. The phenotype of MEN1 syndrome varies between patients in terms of tumor localization, age of onset, and clinical aggressiveness, even between affected members within the same family. We describe a heterogenic phenotype of the MEN1 variant c.781C>T (LRG_509t1), which was previously reported only once in a family with isolated hyperparathyroidism. A heterozygous missense variant in exon 4 of the gene was identified in the sequence of the MEN1 gene, i.e., c.781C>T, leading to the amino acid change p.Leu261Phe in a three-generation family. In the screened family, 5/6 affected members had already developed hyperparathyroidism. In the index patient and two other family members, an aggressive course of pancreatic neuroendocrine tumor (insulinoma and non-functioning neuroendocrine tumors) with dissemination was diagnosed. In the index patient, late diagnosis and slow progression of the disseminated neuroendocrine tumor have been observed (24 years of follow-up). The very rare variant of MEN1, LRG_509t1 c.781C>T /p.Leu261Phe (LRG_509p1), diagnosed within a three-generation family has a heterogenic clinical presentation. Further follow-up of the family members should be carried out to confirm the spectrum and exact time of clinical presentation.

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