Identification of a novel cystic fibrosis mutation in three patients of South Asian descent.
Adolescent
Adult
Asian People
/ genetics
Cystic Fibrosis
/ complications
Cystic Fibrosis Transmembrane Conductance Regulator
/ genetics
Exocrine Pancreatic Insufficiency
/ diagnosis
Female
Genetic Association Studies
Genetic Testing
/ standards
Genotype
Humans
Infant
Intestinal Obstruction
/ diagnosis
Male
Meconium Ileus
/ diagnosis
Mutation
Phenotype
Sweat
/ chemistry
India
South Asian
cystic fibrosis
mutation
novel
Journal
The clinical respiratory journal
ISSN: 1752-699X
Titre abrégé: Clin Respir J
Pays: England
ID NLM: 101315570
Informations de publication
Date de publication:
Jun 2020
Jun 2020
Historique:
received:
10
01
2019
accepted:
08
02
2020
pubmed:
12
2
2020
medline:
31
3
2021
entrez:
12
2
2020
Statut:
ppublish
Résumé
The cystic fibrosis (CF) clinical profile and associated CFTR mutation spectrum is poorly understood in the South Asian population. This is likely due to the lack of diagnostic resources and the absence of a centralised CF database and screening programme, despite a relatively large proportion of the global population. Following identification of a previously unreported CFTR mutation (c.2805_2810delinsTCAGA; p.(Pro936Ginfs*6)) in a newly diagnosed patient of Indian descent, we interrogated national registries for other cases. We identified three European-born subjects of South Asian descent with CF due to a novel CFTR mutation. All three subjects presented in infancy and each had a severe phenotype with intestinal complications as a presenting feature. Two subjects were diagnosed prior to the advent of universal screening. Preliminary genetic screening failed to identify the causative mutation in all three patients. Our work highlights the value of extended or targeted genotyping in selected populations. It also demonstrates the benefit of routine collaboration between national registries. This will promote the identification of novel mutations; leading to greater understanding of genotype-phenotype associations, improved individual prognostication and ultimately the improved availability of novel precision therapies. This collaboration is essential if we are to achieve health equality for people with CF living in resource-limited settings.
Substances chimiques
CFTR protein, human
0
Cystic Fibrosis Transmembrane Conductance Regulator
126880-72-6
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
586-588Informations de copyright
© 2020 John Wiley & Sons Ltd.
Références
Mei-Zahav D, Zielenski S, Tullis T-C, et al. The prevalence and clinical characteristics of cystic fibrosis in South Asian Canadian immigrants. Arch Dis Child. 2005;90(7):675-679.
Powers CA, Potter EM, Wessel HU, Lloyd-Still JD. Cystic fibrosis in Asian Indians. Archives of pediatrics & adolescent medicine. Arch Pediatr Adolesc Med. 1996;150(5):554-555.
Kapoor V, Shastri S, Kabra M, et al. Carrier frequency of F508del mutation of cystic fibrosis in Indian population. J Cyst Fibros. 2006;5(1):43-46.
Ashavaid T, Raghavan R, Dhairyawan P, Bhawalkar S. Cystic fibrosis in India: a systematic review. J Assoc Physicians India. 2012;60:39-41.
Mandal A, Kabra S, Lodha R. Cystic fibrosis in India: past, present and future. J Pul Med Respir Res. 2015;1(1):1-8.
Kabra SK, Kabra M, Shastri S, Lodha R. Diagnosing and managing cystic fibrosis in the developing world. Paediatr Respir Rev. 2006;7:S147-S150.
Kabra SK, Kabra M, Lodha R, Shastri S. Cystic fibrosis in India. Pediatr Pulm. 2007;42(12):1087-1094.
Kawoosa M, Bhat M, Ali S, Hafeez I, Shastri S. Clinical and mutation profile of children with cystic fibrosis in Jammu and Kashmir. Indian Pediatr. 2014;51(3):185-9.
Jackson AD, Goss CH. Epidemiology of CF: how registries can be used to advance our understanding of the CF population. J Cyst Fibros. 2018;17(3):297-305.
Spencer DA, Venkataraman H, Stevenson WPH. Cystic fibrosis in children from ethnic minorities in the West Midlands. Resp Med. 1994;88(9):671-675.
Mirtajani S, Farnia P, Hassanzad M, Ghanavi J, Farnia P, Velayati A. Geographical distribution of cystic fibrosis; The past 70 years of data analyzis. Biomed Biotechnology Res J. 2017;1(2):105-112.