Documenta Ophthalmologica

, Volume 137, Issue 2, pp 103–119 | Cite as

A novel mutation in the PRPF31 in a North Indian adRP family with incomplete penetrance

  • Sofia Bhatia
  • Shiwali Goyal
  • Indu R. Singh
  • Daljit Singh
  • Vanita VanitaEmail author
Original Research Article



To identify the underlying genetic defect for non-syndromic autosomal dominant retinitis pigmentosa (adRP) with incomplete penetrance in a North Indian family.


Family history and clinical data were collected. Linkage analysis using 72 fluorescently labeled microsatellite markers flanking all the 26 candidate genes known for adRP was performed. Mutation screening in candidate gene at the mapped region was performed by bi-directional DNA sequencing.


Positive two-point lod scores > 1.0 (θ = 0.000) suggestive of linkage were obtained with markers D19S572, D19S927 and D19S926 at 19q13.42, in the vicinity of PRPF31 gene. Mutation screening in all the 14 exonic regions and intron–exon boundaries of PRPF31 revealed a novel change, i.e. c.896G>A (p.Cys299Tyr) in exon eight. The observed change segregated in heterozygous form in all the six affected members and in three carriers, consistent with incomplete penetrance. This substitution was not observed in tested 15 unaffected members and in 200 ethnically matched controls.


Present study describes mapping of a locus for non-syndromic adRP with incomplete penetrance at 19q13.42 in a North Indian family and identifies a novel missense mutation (p.Cys299Tyr) in PRPF31 localized at the mapped interval. The observed substitution lies in the NOP domain of PRPF31 that exhibit RNA and protein binding surfaces and thus may interfere in the formation of spliceosome complex. Due to p.Cys299Tyr substitution hydrogen bonds are generated, which may result in conformational changes and PRPF31 protein deformity. Present findings further substantiate the role of PRPF31 in adRP with incomplete penetrance and expand the mutation spectrum of PRPF31.


Autosomal dominant retinitis pigmentosa PRPF31 Linkage analysis Mutation screening RP11 locus Two-point lod scores 



The authors are grateful to all the family members for their participation in this study and for their kind cooperation. We are thankful to the retina experts at the Dr. Daljit Singh Eye Hospital, Amritsar, Punjab and Dr. Shroff’s Charity Eye Hospital, New Delhi, India, for undertaking ophthalmic examinations of all the members of this family.


This work was supported in part by grant sanctioned from Department of Biotechnology, India BT/IN/German/13/VK/2010 IND 10/036 to VV under the framework of Indo-German bilateral cooperation for research. Authors are also thankful to DST-PURSE scheme from DST, Government of India for providing research grant to GNDU.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Human and animal rights

The study conforms to the Declaration of Helsinki. No animals were used.

Informed consent

The present study adhered to the Tenets of the Declaration of Helsinki and was approved by the ethics committee of Guru Nanak Dev University, Amritsar. Written informed consent was obtained from all the participating individuals.

Supplementary material

10633_2018_9654_MOESM1_ESM.docx (16 kb)
Supplementary material 1 (DOCX 16 kb)


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Human GeneticsGuru Nanak Dev University (GNDU)AmritsarIndia
  2. 2.Dr. Daljit Singh Eye HospitalAmritsarIndia

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