Somatic Mosaicism for a "lethal" GJB2 Mutation Results in a Patterned Form of Spiny Hyperkeratosis without Eccrine Involvement

Marina Eskin-Schwartz; Yoav Metzger; Alon Peled; Daphna Weissglas-Volkov; Natalia Malchin; Andrea Gat; Dan Vodo; Baruch Mevorah; Noam Shomron; Eli Sprecher; Ofer Sarig

doi:10.1111/pde.12848

Somatic Mosaicism for a "lethal" GJB2 Mutation Results in a Patterned Form of Spiny Hyperkeratosis without Eccrine Involvement

Marina Eskin-Schwartz, Yoav Metzger, Alon Peled, Daphna Weissglas-Volkov, Natalia Malchin, Andrea Gat, Dan Vodo, Baruch Mevorah, Noam Shomron, Eli Sprecher, Ofer Sarig

Tel Aviv University

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

Abstract

Background Spiny hyperkeratosis refers to a rare clinical phenotype characterized by nonfollicular keratotic projections and sometimes associated with other acquired and inherited conditions. We describe a case of congenital patterned spiny hyperkeratosis. Methods To identify the cause of this disorder, we used a combination of whole exome sequencing, direct sequencing and TaqMan assay. Results We found that the peculiar clinical features displayed by the patient are due to somatic mosaicism for a heterozygous mutation in the GJB2 gene. Conclusion Because histopathologic examination of two independent biopsies did not reveal porokeratotic eccrine ostial and dermal duct nevus (PEODDN), previously reported to result from somatic mutations in GJB2, it appears that mutations in this gene can cause nevoid spiny hyperkeratosis in the context of PEODDN or as an isolated finding.

Original language	American English
Pages (from-to)	322-326
Number of pages	5
Journal	Pediatric Dermatology
Volume	33
Issue number	3
DOIs	https://doi.org/10.1111/pde.12848
State	Published - 1 May 2016

All Science Journal Classification (ASJC) codes

Pediatrics, Perinatology, and Child Health
Dermatology

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10.1111/pde.12848

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title = "Somatic Mosaicism for a {"}lethal{"} GJB2 Mutation Results in a Patterned Form of Spiny Hyperkeratosis without Eccrine Involvement",

abstract = "Background Spiny hyperkeratosis refers to a rare clinical phenotype characterized by nonfollicular keratotic projections and sometimes associated with other acquired and inherited conditions. We describe a case of congenital patterned spiny hyperkeratosis. Methods To identify the cause of this disorder, we used a combination of whole exome sequencing, direct sequencing and TaqMan assay. Results We found that the peculiar clinical features displayed by the patient are due to somatic mosaicism for a heterozygous mutation in the GJB2 gene. Conclusion Because histopathologic examination of two independent biopsies did not reveal porokeratotic eccrine ostial and dermal duct nevus (PEODDN), previously reported to result from somatic mutations in GJB2, it appears that mutations in this gene can cause nevoid spiny hyperkeratosis in the context of PEODDN or as an isolated finding.",

author = "Marina Eskin-Schwartz and Yoav Metzger and Alon Peled and Daphna Weissglas-Volkov and Natalia Malchin and Andrea Gat and Dan Vodo and Baruch Mevorah and Noam Shomron and Eli Sprecher and Ofer Sarig",

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doi = "10.1111/pde.12848",

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T1 - Somatic Mosaicism for a "lethal" GJB2 Mutation Results in a Patterned Form of Spiny Hyperkeratosis without Eccrine Involvement

AU - Eskin-Schwartz, Marina

AU - Metzger, Yoav

AU - Peled, Alon

AU - Weissglas-Volkov, Daphna

AU - Malchin, Natalia

AU - Gat, Andrea

AU - Vodo, Dan

AU - Mevorah, Baruch

AU - Shomron, Noam

AU - Sprecher, Eli

AU - Sarig, Ofer

PY - 2016/5/1

Y1 - 2016/5/1

N2 - Background Spiny hyperkeratosis refers to a rare clinical phenotype characterized by nonfollicular keratotic projections and sometimes associated with other acquired and inherited conditions. We describe a case of congenital patterned spiny hyperkeratosis. Methods To identify the cause of this disorder, we used a combination of whole exome sequencing, direct sequencing and TaqMan assay. Results We found that the peculiar clinical features displayed by the patient are due to somatic mosaicism for a heterozygous mutation in the GJB2 gene. Conclusion Because histopathologic examination of two independent biopsies did not reveal porokeratotic eccrine ostial and dermal duct nevus (PEODDN), previously reported to result from somatic mutations in GJB2, it appears that mutations in this gene can cause nevoid spiny hyperkeratosis in the context of PEODDN or as an isolated finding.

AB - Background Spiny hyperkeratosis refers to a rare clinical phenotype characterized by nonfollicular keratotic projections and sometimes associated with other acquired and inherited conditions. We describe a case of congenital patterned spiny hyperkeratosis. Methods To identify the cause of this disorder, we used a combination of whole exome sequencing, direct sequencing and TaqMan assay. Results We found that the peculiar clinical features displayed by the patient are due to somatic mosaicism for a heterozygous mutation in the GJB2 gene. Conclusion Because histopathologic examination of two independent biopsies did not reveal porokeratotic eccrine ostial and dermal duct nevus (PEODDN), previously reported to result from somatic mutations in GJB2, it appears that mutations in this gene can cause nevoid spiny hyperkeratosis in the context of PEODDN or as an isolated finding.

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U2 - 10.1111/pde.12848

DO - 10.1111/pde.12848

M3 - Article

C2 - 27087580

SN - 0736-8046

VL - 33

SP - 322

EP - 326

JO - Pediatric Dermatology

JF - Pediatric Dermatology

IS - 3

ER -

Somatic Mosaicism for a "lethal" GJB2 Mutation Results in a Patterned Form of Spiny Hyperkeratosis without Eccrine Involvement

Abstract

All Science Journal Classification (ASJC) codes

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