Focal dermal hypoplasia with a de novo mutation p.e300FNx01 of porcn gene in a male infant

Swathi Sunil Rao, Rathika D. Shenoy, Smrithi Salian, Katta M. Girisha

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Focal dermal hypoplasia is a rare disorder inherited in an X-linked dominant pattern and is usually antenatally lethal in males. We report a surviving male with postzygotic de novo mutation p.E300∗ in exon 10 of PORCN gene with mosaicism, earlier reported in a female of Thai origin. This is the first report of this mutation from the Indian subcontinent.

Original languageEnglish
Number of pages1
JournalIndian Journal of Dermatology
Volume61
Issue number6
DOIs
Publication statusPublished - 01-11-2016

Fingerprint

Focal Dermal Hypoplasia
Mutation
Mosaicism
Genes
Exons

All Science Journal Classification (ASJC) codes

  • Dermatology

Cite this

@article{71b73d5c413046899ab86a34b7670e96,
title = "Focal dermal hypoplasia with a de novo mutation p.e300FNx01 of porcn gene in a male infant",
abstract = "Focal dermal hypoplasia is a rare disorder inherited in an X-linked dominant pattern and is usually antenatally lethal in males. We report a surviving male with postzygotic de novo mutation p.E300∗ in exon 10 of PORCN gene with mosaicism, earlier reported in a female of Thai origin. This is the first report of this mutation from the Indian subcontinent.",
author = "Rao, {Swathi Sunil} and Shenoy, {Rathika D.} and Smrithi Salian and Girisha, {Katta M.}",
year = "2016",
month = "11",
day = "1",
doi = "10.4103/0019-5154.193712",
language = "English",
volume = "61",
journal = "Indian Journal of Dermatology",
issn = "0019-5154",
publisher = "Medknow Publications and Media Pvt. Ltd",
number = "6",

}

Focal dermal hypoplasia with a de novo mutation p.e300FNx01 of porcn gene in a male infant. / Rao, Swathi Sunil; Shenoy, Rathika D.; Salian, Smrithi; Girisha, Katta M.

In: Indian Journal of Dermatology, Vol. 61, No. 6, 01.11.2016.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Focal dermal hypoplasia with a de novo mutation p.e300FNx01 of porcn gene in a male infant

AU - Rao, Swathi Sunil

AU - Shenoy, Rathika D.

AU - Salian, Smrithi

AU - Girisha, Katta M.

PY - 2016/11/1

Y1 - 2016/11/1

N2 - Focal dermal hypoplasia is a rare disorder inherited in an X-linked dominant pattern and is usually antenatally lethal in males. We report a surviving male with postzygotic de novo mutation p.E300∗ in exon 10 of PORCN gene with mosaicism, earlier reported in a female of Thai origin. This is the first report of this mutation from the Indian subcontinent.

AB - Focal dermal hypoplasia is a rare disorder inherited in an X-linked dominant pattern and is usually antenatally lethal in males. We report a surviving male with postzygotic de novo mutation p.E300∗ in exon 10 of PORCN gene with mosaicism, earlier reported in a female of Thai origin. This is the first report of this mutation from the Indian subcontinent.

UR - http://www.scopus.com/inward/record.url?scp=84995468936&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84995468936&partnerID=8YFLogxK

U2 - 10.4103/0019-5154.193712

DO - 10.4103/0019-5154.193712

M3 - Article

AN - SCOPUS:84995468936

VL - 61

JO - Indian Journal of Dermatology

JF - Indian Journal of Dermatology

SN - 0019-5154

IS - 6

ER -