Abstract
The authors report on a child with Setleis syndrome (OMIM 227260). She is born to a consanguineous couple with bitemporal scar like defects resembling forceps marks. She had other classical features resembling autosomal recessive Setleis syndrome. The authors identified a novel homozygous deletion of a single nucleotide (c.91delC) in TWIST2 gene leading to the premature truncation of protein (p.R31GfsX71). Umbilical hernia and genital anomalies are being reported for the first time with this condition. This is the fourth mutation proven family of Setleis syndrome.
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References
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Contributions
KMG and MKS were involved in the diagnosis of the case and provided clinical data. AMB performed laboratory work and sequence analysis. KMG and AMB contributed to the writing of the manuscript. KS supervised the laboratory experiments and critically reviewed the manuscript. The final manuscript was approved by all the authors. KMG will act as guarantor for the manuscript.
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Role of Funding Source
KS acknowledges support from Technology Information, Forecasting and Assessment Council (TIFAC) - Centre of Relevance and Excellence (CORE), Department of Science and Technology, Government of India.
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Girisha, K.M., Bidchol, A.M., Sarpangala, M.K. et al. A Novel Frameshift Mutation in TWIST2 Gene Causing Setleis Syndrome. Indian J Pediatr 81, 302–304 (2014). https://doi.org/10.1007/s12098-013-1253-y
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DOI: https://doi.org/10.1007/s12098-013-1253-y