Mutational spectrum of theTYRandSLC45A2genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase

2015 ◽  
Vol 40 (7) ◽  
pp. 774-780 ◽  
Author(s):  
S. A. Shah ◽  
N. Raheem ◽  
S. Daud ◽  
J. Mubeen ◽  
A. A. Shaikh ◽  
...  
Keyword(s):  
Founder Effect ◽  
Oculocutaneous Albinism ◽  
Mutational Spectrum ◽  
Pakistani Families ◽  
Missense Substitution

scholarly journals Potential Founder Effect of Tyrosinase Gene Mutations in Oculocutaneous Albinism Families from West of Iran

2017 ◽  
Vol 1 (1) ◽  
Author(s):  
Faravareh Khordadpoor Deilamani ◽  
Mohammad Taghi Akbari
Keyword(s):  
Founder Effect ◽  
Gene Mutations ◽  
Homozygosity Mapping ◽  
Oculocutaneous Albinism ◽  
Founder Mutations ◽  
Single Base ◽  
Str Markers ◽  
Tyrosinase Gene ◽  
Similar Haplotype ◽  
Tyr Gene

Background: Non syndromic oculocutaneous albinism type (OCA) is caused by mutations in tyrosinase (TYR), OCA2, TYRP1, MATP (SLC45A2), SLC24A5 and C10ORF11 genes. Screening for mutations is important in families with oculocutaneous albinism patients in order to accurately diagnose the albinism type, genetic counseling and future therapeutic purposes. Objectives: The Aim of this study was to investigate the founder effect of most frequent mutations in OCA patients. Methods: TYR gene was sequenced in 26 unrelated inbred OCA families as well as 56 unrelated healthy individuals. In addition, homozygosity mapping was performed using 13 STR markers for 6 OCA loci (TYR, OCA2, TYRP1, MATP (SLC45A2), SLC24A5 and C10ORF11 genes). Different mutations were found in these genes from which a single base duplication (c.286dupA) and two single base substitutions c.996G > A (p.M332I) and c.230G > A (p.R77Q) had the most frequencies among the OCA families. In order to investigate the founder effect of these mutations, the haplotypes of two STR markers (TYR-S1 and TYR-S2) inside the TYR gene were ascertained. Results: It was revealed that families with similar mutation harbored similar haplotype for the TYR STR markers too. Conclusions: We conclude that these mutations are possible founder mutations in the Iranian population.

Clinical variability and probable founder effect in oculocutaneous albinism type 7

2019 ◽  
Vol 97 (3) ◽  
pp. 527-528
Author(s):  
Pauline Bataille ◽  
Vincent Michaud ◽  
Matthieu P. Robert ◽  
Lilia Bekel ◽  
Stéphanie Leclerc‐Mercier ◽  
...  
Keyword(s):  
Founder Effect ◽  
Oculocutaneous Albinism ◽  
Clinical Variability

scholarly journals Mutations in TYR and OCA2 associated with oculocutaneous albinism in Pakistani families

Meta Gene ◽  
2018 ◽  
Vol 17 ◽  
pp. 48-55 ◽  
Author(s):  
Muhammad Waqar Arshad ◽  
Gaurav V. Harlalka ◽  
Siying Lin ◽  
Ilaria D'Atri ◽  
Sarmad Mehmood ◽  
...  
Keyword(s):  
Oculocutaneous Albinism ◽  
Pakistani Families

scholarly journals The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences

2022 ◽  
Vol 63 (1) ◽  
pp. 19
Author(s):  
Charlotte C. Kruijt ◽  
Libe Gradstein ◽  
Arthur A. Bergen ◽  
Ralph J. Florijn ◽  
Benoit Arveiler ◽  
...  
Keyword(s):  
Oculocutaneous Albinism ◽  
Mutational Spectrum ◽  
Similarities And Differences

Author response for "Clinical variability and probable founder effect in oculocutaneous albinism type 7"

2019 ◽  
Author(s):  
Pauline Bataille ◽  
Vincent Michaud ◽  
Matthieu P. Robert ◽  
Lilia Bekel ◽  
Stéphanie Leclerc‐Mercier ◽  
...  
Keyword(s):  
Founder Effect ◽  
Oculocutaneous Albinism ◽  
Author Response ◽  
Clinical Variability
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