title: Clinical evidence that V456A is a Cystic Fibrosis causing mutation in South Asians.
abstract: BACKGROUND
  Cystic Fibrosis (CF) genotypes in South Asians are variable with a decreased incidence of Delta F508 and an increased incidence of novel mutations. The objective of this study is to provide clinical evidence that V456A, a novel mutation in South Asian Cystic Fibrosis patients, can cause significant lung disease.
  
  
  METHODS
  We extracted clinical data from a retrospective chart review of 2 CF patients of South Asian descent.
  
  
  RESULTS
  Patient 1, a 10 year and 11 month old Pakistani female at her initial clinic visit, required multiple hospitalizations for bronchiectasis and pulmonary infections. She was pancreatic sufficient but had slow weight gain. Genetic testing revealed that she is homozygous for the CFTR V456A mutation. Patient 2, an Indian female diagnosed with CF on newborn screening, is compound heterozygous for V456A/R709X. She had slow weight gain with BMI ranging from 12.9 to 13.4 kg/m(2) from 3 to 5 years of age and was 14.2 kg/m(2) at 6 years of age. At 6 years of age, pulmonary function tests revealed mild lung disease with FVC of 71%, FEV(1) of 75%, FEF(25-75) of 119%, and FEV(1)/FVC of 86% predicted. Sputum cultures were intermittently positive for Staphylococcus aureus and Haemophilus influenza.
  
  
  CONCLUSIONS
  We provide evidence that V456A can cause significant pulmonary disease in South Asian Cystic Fibrosis patients.
authors.affiliation: Department of Pediatrics, Division of Pulmonary Medicine and Cystic Fibrosis Center, University of Medicine and Dentistry New Jersey-Robert Wood Johnson Medical School, New Brunswick, NJ 08901, USA. uppalulp@umdnj.edu
authors.forename: L
authors.initials: L
authors.lastname: Uppaluri
authors.forename: S J
authors.initials: SJ
authors.lastname: England
authors.forename: T F
authors.initials: TF
authors.lastname: Scanlin
mesh_terms: D002648:Child; D003550:Cystic Fibrosis / Q000000981:diagnostic imaging / Q000208:ethnology* / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D057210:Delayed Diagnosis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics; D006801:Humans; D007194:India; D008171:Lung Diseases / Q000000981:diagnostic imaging / Q000208:ethnology / Q000235:genetics; D010154:Pakistan; D017354:Point Mutation / Q000235:genetics*; D012189:Retrospective Studies; D014057:Tomography, X-Ray Computed
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator