Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: A pancreatic sufficiency/insufficiency mutation with variable clinical presentation

Carlos Vazquez, Guillermo Antinolo, Teresa Casals, Javier Dapena, Javier Elorz, Jose L. Seculi, Josep Sirvent, Rodrigo Cabanas, Conception Soler, Xavier P. Estivill

Research output: Contribution to journalArticle

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Abstract

To study the severity of mutation G85E, located in the first membrane spanning domain of the CFTR gene, we studied the clinical features of 13 Spanish patients with cystic fibrosis (CF) carrying this mutation. G85E accounts for about 1% of Spanish CF alleles. One patient was homozygous G85E/G85E and the rest were compound heterozygotes for G85E and other mutations (ΔF508 nine patients, ΔI507 two patients, and 712-1G > T one patient). The characteristics of the pooled G85E/any mutation group were compared with those of 30 ΔF508 homozygotes. Mean age at diagnosis and percentage of ideal height for age were higher in the G85E/any mutation group (4.2 (SD 4.7) v 2.4 (SD 2.3), p < 0.05, and 102.8 (SD 4.7) v 97.8 (SD 4.1), p < 0.01)), both probably related to the greater prevalence of pancreatic sufficiency (70% v 0%, p < 0.01). The G85E homozygote was pancreatic sufficient. Sweat sodium levels were slightly higher, and salt loss related problems more frequent, in the G85E/any group. Two of the G85E patients died of respiratory failure aged 6 and 14 years. Striking discordance in the phenotype was observed in two pairs of sibs, one of them dizygotic twins, suggesting that factors, genetic and environmental, other than CFTR genotype are important in determining CF phenotype.

Original languageEnglish
Pages (from-to)820-822
Number of pages3
JournalJournal of Medical Genetics
Volume33
Issue number10
Publication statusPublished - 1996
Externally publishedYes

Fingerprint

Exocrine Pancreatic Insufficiency
Missense Mutation
Cystic Fibrosis
Mutation
Homozygote
Phenotype
Dizygotic Twins
Sweat
Heterozygote
Respiratory Insufficiency
Salts
Sodium
Alleles
Genotype
Membranes
Genes

Keywords

  • CFTR mutations
  • Cystic fibrosis
  • G85E mutation
  • Phenotype

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E : A pancreatic sufficiency/insufficiency mutation with variable clinical presentation. / Vazquez, Carlos; Antinolo, Guillermo; Casals, Teresa; Dapena, Javier; Elorz, Javier; Seculi, Jose L.; Sirvent, Josep; Cabanas, Rodrigo; Soler, Conception; Estivill, Xavier P.

In: Journal of Medical Genetics, Vol. 33, No. 10, 1996, p. 820-822.

Research output: Contribution to journalArticle

Vazquez, Carlos ; Antinolo, Guillermo ; Casals, Teresa ; Dapena, Javier ; Elorz, Javier ; Seculi, Jose L. ; Sirvent, Josep ; Cabanas, Rodrigo ; Soler, Conception ; Estivill, Xavier P. / Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E : A pancreatic sufficiency/insufficiency mutation with variable clinical presentation. In: Journal of Medical Genetics. 1996 ; Vol. 33, No. 10. pp. 820-822.
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abstract = "To study the severity of mutation G85E, located in the first membrane spanning domain of the CFTR gene, we studied the clinical features of 13 Spanish patients with cystic fibrosis (CF) carrying this mutation. G85E accounts for about 1{\%} of Spanish CF alleles. One patient was homozygous G85E/G85E and the rest were compound heterozygotes for G85E and other mutations (ΔF508 nine patients, ΔI507 two patients, and 712-1G > T one patient). The characteristics of the pooled G85E/any mutation group were compared with those of 30 ΔF508 homozygotes. Mean age at diagnosis and percentage of ideal height for age were higher in the G85E/any mutation group (4.2 (SD 4.7) v 2.4 (SD 2.3), p < 0.05, and 102.8 (SD 4.7) v 97.8 (SD 4.1), p < 0.01)), both probably related to the greater prevalence of pancreatic sufficiency (70{\%} v 0{\%}, p < 0.01). The G85E homozygote was pancreatic sufficient. Sweat sodium levels were slightly higher, and salt loss related problems more frequent, in the G85E/any group. Two of the G85E patients died of respiratory failure aged 6 and 14 years. Striking discordance in the phenotype was observed in two pairs of sibs, one of them dizygotic twins, suggesting that factors, genetic and environmental, other than CFTR genotype are important in determining CF phenotype.",
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AU - Casals, Teresa

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