Dystrophic epidermolysis bullosa in Mexico: 2470insG represents the most common mutation in 21 families

Julio César Salas-Alanis, John A. McGrath

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Background: Type VII collagen gene (COL 7 Al) mutations are the cause of dystrophic epidermolysis bullosa (DEB), but most mutations are specific to individual families and there is limited data on the nature of COL 7 Al mutations in certain ethnic populations. Objective. To determine the molecular basis of DEB in Mexican patients and describe the most frequent mutation among this ethnic population. Methods: Most subjects were approached at FUNDACION DEBRA MEXICO AC. Molecular analysis was performed by polymerase chain reaction (PCR) of genomic DNA using COL 7 A l-specific primers, heteroduplex analysis, and direct nucleotide sequencing. Results: Fifty nine of 67 COL 7 Al possible mutations (88%) were identified; 36 individuals (31 recessive, five dominant) from 21 families. Recessive mutations included six frameshift mutations, four silent glycine substitutions and two splice site mutations. Conclusions: The present study informs a different kind of mutation observed in our patient population. Only two mutations informed in this study had been described earlier among another ethnic group. The most frequent mutation was 2470insG, affecting 21(58.3%) out of 36 patients with DEB. These new data will be helpful in facilitating the accurate diagnosis of an DEB subtype, and will add further insight into the pathophysiology of this mechanobullous disease.
Original languageEnglish
Pages (from-to)29-34
Number of pages6
JournalGaceta Medica de Mexico
Publication statusPublished - 1 Jan 2006
Externally publishedYes

Fingerprint

Epidermolysis Bullosa Dystrophica
Mexico
Mutation
Collagen Type VII
Heteroduplex Analysis
Population
Frameshift Mutation
Ethnic Groups
Glycine
Nucleotides

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

@article{cec27994698140e99452cf3f24f702d3,
title = "Dystrophic epidermolysis bullosa in Mexico: 2470insG represents the most common mutation in 21 families",
abstract = "Background: Type VII collagen gene (COL 7 Al) mutations are the cause of dystrophic epidermolysis bullosa (DEB), but most mutations are specific to individual families and there is limited data on the nature of COL 7 Al mutations in certain ethnic populations. Objective. To determine the molecular basis of DEB in Mexican patients and describe the most frequent mutation among this ethnic population. Methods: Most subjects were approached at FUNDACION DEBRA MEXICO AC. Molecular analysis was performed by polymerase chain reaction (PCR) of genomic DNA using COL 7 A l-specific primers, heteroduplex analysis, and direct nucleotide sequencing. Results: Fifty nine of 67 COL 7 Al possible mutations (88{\%}) were identified; 36 individuals (31 recessive, five dominant) from 21 families. Recessive mutations included six frameshift mutations, four silent glycine substitutions and two splice site mutations. Conclusions: The present study informs a different kind of mutation observed in our patient population. Only two mutations informed in this study had been described earlier among another ethnic group. The most frequent mutation was 2470insG, affecting 21(58.3{\%}) out of 36 patients with DEB. These new data will be helpful in facilitating the accurate diagnosis of an DEB subtype, and will add further insight into the pathophysiology of this mechanobullous disease.",
author = "Salas-Alanis, {Julio C{\'e}sar} and McGrath, {John A.}",
year = "2006",
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Dystrophic epidermolysis bullosa in Mexico: 2470insG represents the most common mutation in 21 families. / Salas-Alanis, Julio César; McGrath, John A.

In: Gaceta Medica de Mexico, 01.01.2006, p. 29-34.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Dystrophic epidermolysis bullosa in Mexico: 2470insG represents the most common mutation in 21 families

AU - Salas-Alanis, Julio César

AU - McGrath, John A.

PY - 2006/1/1

Y1 - 2006/1/1

N2 - Background: Type VII collagen gene (COL 7 Al) mutations are the cause of dystrophic epidermolysis bullosa (DEB), but most mutations are specific to individual families and there is limited data on the nature of COL 7 Al mutations in certain ethnic populations. Objective. To determine the molecular basis of DEB in Mexican patients and describe the most frequent mutation among this ethnic population. Methods: Most subjects were approached at FUNDACION DEBRA MEXICO AC. Molecular analysis was performed by polymerase chain reaction (PCR) of genomic DNA using COL 7 A l-specific primers, heteroduplex analysis, and direct nucleotide sequencing. Results: Fifty nine of 67 COL 7 Al possible mutations (88%) were identified; 36 individuals (31 recessive, five dominant) from 21 families. Recessive mutations included six frameshift mutations, four silent glycine substitutions and two splice site mutations. Conclusions: The present study informs a different kind of mutation observed in our patient population. Only two mutations informed in this study had been described earlier among another ethnic group. The most frequent mutation was 2470insG, affecting 21(58.3%) out of 36 patients with DEB. These new data will be helpful in facilitating the accurate diagnosis of an DEB subtype, and will add further insight into the pathophysiology of this mechanobullous disease.

AB - Background: Type VII collagen gene (COL 7 Al) mutations are the cause of dystrophic epidermolysis bullosa (DEB), but most mutations are specific to individual families and there is limited data on the nature of COL 7 Al mutations in certain ethnic populations. Objective. To determine the molecular basis of DEB in Mexican patients and describe the most frequent mutation among this ethnic population. Methods: Most subjects were approached at FUNDACION DEBRA MEXICO AC. Molecular analysis was performed by polymerase chain reaction (PCR) of genomic DNA using COL 7 A l-specific primers, heteroduplex analysis, and direct nucleotide sequencing. Results: Fifty nine of 67 COL 7 Al possible mutations (88%) were identified; 36 individuals (31 recessive, five dominant) from 21 families. Recessive mutations included six frameshift mutations, four silent glycine substitutions and two splice site mutations. Conclusions: The present study informs a different kind of mutation observed in our patient population. Only two mutations informed in this study had been described earlier among another ethnic group. The most frequent mutation was 2470insG, affecting 21(58.3%) out of 36 patients with DEB. These new data will be helpful in facilitating the accurate diagnosis of an DEB subtype, and will add further insight into the pathophysiology of this mechanobullous disease.

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JO - Gaceta Medica de Mexico

JF - Gaceta Medica de Mexico

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