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Pediatric Rheumatology

Open Access

“Next generation sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease”

  • Afolake T. Arowolo1Email author,
  • Henry A. Adeola1 and
  • Nonhlanhla P. Khumalo1
Pediatric Rheumatology201715:88

https://doi.org/10.1186/s12969-017-0215-8

Received: 5 December 2017

Accepted: 14 December 2017

Published: 29 December 2017

Dear Editor,

With great interest, we read Zrhidri et al.’s paper [1] which reports compound heterozygous mutations in exon 4 and 9 of the GNPTG gene, in a familial scleroderma-like disease. This novel finding represents an important addition to the family of genetic mutations previously associated with multisystemic fibrosis and scleroderma-like diseases in literature. Further, elucidating pathogenetic mechanisms of genetic systemic fibrosis could potentially lead to discovery of effective treatment of auto-immune systemic sclerosis and related diseases, and alleviate severe morbidity and mortality.

Although the authors focused on scleroderma-like manifestations found in Mucolipidosis type III (pseudo-Hurler polydystrophy), it would have also been useful to mention other genes associated with a scleroderma-like phenotype in their study discussion. Some examples are listed below:
  • FAM 111B gene for scleroderma and multisystemic fibrosis-like hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) [2]

  • RECQL4 gene for Rothmund Thomson Syndrome (RTS) [3],

  • WRN gene for Werner syndrome (WS) [4]

  • LMNA gene in Hutchinson-Gilford progeria syndrome (HGPS) [5]

Finally, considering the multifactorial etiology of fibrosis, it would be interesting to see how the new gene (GNPTG) compares to other genes involved in scleroderma-like diseases such as FAM 111B (POIKTMP), RECLQL4 (RTS), WRN (WS) and LMNA (HGPS); and if there are possible gene interactions, considering the similarities in the phenotype produced.

Declarations

Acknowledgements

HAA thanks the South African Medical Research Council (SAMRC) for a mid-career scientist research grant. NPK thanks the SAMRC, the National Research Foundation South African Research Chair Initiative, the National Skills Fund (NSF) and the Services SETA (Sector Education and Training Authority).

Funding

Not applicable.

Availability of data and materials

Data sharing not applicable to this article as no datasets were generated or analysed.

Authors’ contributions

AA, HAA and NPK prepared and revised the manuscript. All authors read and approved the final manuscript.

Ethics approval and consent to participate

Not applicable.

Consent for publication

All authors have given consent for publication.

Competing interests

The authors declare that they have no conflict interest.

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Authors’ Affiliations

(1)
Hair and Skin Research Laboratory, Division of Dermatology, Department of Medicine, Faculty of Health Sciences and Groote Schuur Hospital, University of Cape Town, Cape Town, South Africa

References

  1. Zrhidri A, Amasdl S, Lyahyai J, Elouardi H, Chkirate B, Raymond L, et al. Next generation sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease. Pediatr Rheumatol. 2017;15(1):72.View ArticleGoogle Scholar
  2. Mercier S, Küry S, Shaboodien G, Houniet DT, Khumalo NP, Bou-Hanna C, et al. Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. Am J Hum Genet. 2013;93(6):1100–7.View ArticlePubMedPubMed CentralGoogle Scholar
  3. Larizza L, Roversi G, Volpi L. Rothmund-thomson syndrome. Orphanet journal of rare diseases. 2010;5(1):2.View ArticlePubMedPubMed CentralGoogle Scholar
  4. Goto M, Okawa-Takatsuji M, Aotsuka S, Nakai H, Shimizu M, Goto H, et al. Significant elevation of IgG anti-WRN (RecQ3 RNA/DNA helicase) antibody in systemic sclerosis. Mod Rheumatol. 2006;16:229–34.View ArticlePubMedGoogle Scholar
  5. Kim HK, Lee JY, Bae EJ, Oh PS, Park WI, Lee DS, et al. Hutchinson-Gilford progeria syndrome with G608G LMNA mutation. J Korean Med Sci. 2011 Dec;26(12):1642–5.View ArticlePubMedPubMed CentralGoogle Scholar

Copyright

© The Author(s). 2017

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