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

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.


  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.

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  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.

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  3. Larizza L, Roversi G, Volpi L. Rothmund-thomson syndrome. Orphanet journal of rare diseases. 2010;5(1):2.

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  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.

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  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.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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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).


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

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Correspondence to Afolake T. Arowolo.

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Arowolo, A., Adeola, H.A. & Khumalo, N.P. “Next generation sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease”. Pediatr Rheumatol 15, 88 (2017).

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