2018
DOI: 10.1002/ajmg.a.40668
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Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe

Abstract: Whole exome sequencing (WES) has become routine in clinical practice, especially in studies of recessive hereditary diseases in inbred consanguineous families, where homozygosity of a founder mutation is assumed. Multiple members of two consanguineous families of a single Bedouin tribe were diagnosed with apparently autosomal recessive/pseudo-dominant retinitis pigmentosa (RP). Affected individuals exhibited severe visual impairment with nyctalopia, marked constriction of visual fields, markedly reduced and de… Show more

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Cited by 3 publications
(4 citation statements)
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“…As we showed previously, deletion mutations may be overlooked with WES 19 . Both WES and Sanger sequencing demonstrated apparent homozygosity of the RBP3 missense mutation.…”
Section: Discussionmentioning
confidence: 53%
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“…As we showed previously, deletion mutations may be overlooked with WES 19 . Both WES and Sanger sequencing demonstrated apparent homozygosity of the RBP3 missense mutation.…”
Section: Discussionmentioning
confidence: 53%
“…As we showed previously, deletion mutations may be overlooked with WES. 19 Both WES and Sanger sequencing demonstrated apparent homozygosity of the RBP3 missense mutation. Notably, while small deletions are well-identified by WES, larger deletions are often missed.…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…Certain variants reported herein were not only seen in European alleles (i.e., USH2A c.12575 G > A in Spain 49 , USH2A c.1751G > T in Italy 50 , PRPF31 c.371_375del in Germany 51 , TYR c.996 G > A in Denmark 52 , USH2A c.11864 G > A in UK) 53 , or other American countries ( COL2A1 c.3574 C > T in Brazil 54 , RPGR c.1345 C > T in North America 55 ), but also in populations from all around the world ( USH2A c.5329 C > T in Japan 56 , EYS c.5450 G > A in a Bedouin tribe in Israel 57 , FAM161A c.1003 C > T in Palestine 58 , CNGB3 c.1148del in Pingelapese islanders of Micronesia 59 , and USH2A c.5858 C > G in Tunisia, among others) 60 .…”
Section: Discussionmentioning
confidence: 99%