2470insG, represents the commonest mutation in Mexican patients with dystrophic bullous epidermolysis. A study of 21 families

Julio César Salas-Alanis, John A. McGrath

Research output: Contribution to journalArticle

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 médica de México.
Publication statusPublished - 1 Jan 2006
Externally publishedYes

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Mutation
Epidermolysis Bullosa Dystrophica
Collagen Type VII
Heteroduplex Analysis
Population
Frameshift Mutation
Ethnic Groups
Glycine
Nucleotides
Polymerase Chain Reaction
DNA
Genes

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

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title = "2470insG, represents the commonest mutation in Mexican patients with dystrophic bullous epidermolysis. A study of 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 = "{C{\'e}sar Salas-Alanis}, Julio and McGrath, {John A.}",
year = "2006",
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language = "English",
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journal = "Gaceta Medica de Mexico",
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2470insG, represents the commonest mutation in Mexican patients with dystrophic bullous epidermolysis. A study of 21 families. / César Salas-Alanis, Julio; McGrath, John A.

In: Gaceta médica de México., 01.01.2006, p. 29-34.

Research output: Contribution to journalArticle

TY - JOUR

T1 - 2470insG, represents the commonest mutation in Mexican patients with dystrophic bullous epidermolysis. A study of 21 families

AU - César Salas-Alanis, Julio

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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