- Letter to the Editor
- Open Access
“Next generation sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease”
© The Author(s). 2017
- Received: 5 December 2017
- Accepted: 14 December 2017
- Published: 29 December 2017
With great interest, we read Zrhidri et al.’s paper  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.
FAM 111B gene for scleroderma and multisystemic fibrosis-like hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) 
RECQL4 gene for Rothmund Thomson Syndrome (RTS) ,
WRN gene for Werner syndrome (WS) 
LMNA gene in Hutchinson-Gilford progeria syndrome (HGPS) 
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.
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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