Pierpont syndrome‐Report of a new patient

We report on a 6‐year‐old girl with Pierpont Syndrome who was diagnosed using the whole‐exome sequencing technique. In addition to commonly recognized traits, our patient had scoliosis, a feature reported only in one other occasion.

[1]  J. Thevenon,et al.  TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation , 2018, American journal of medical genetics. Part A.

[2]  N. Risch,et al.  Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1. , 2017, European journal of medical genetics.

[3]  Francesca Forzano,et al.  A specific mutation in TBL1XR1 causes Pierpont syndrome , 2016, Journal of Medical Genetics.

[4]  N. de Leeuw,et al.  Pierpont Syndrome: A Collaborative Study , 2011, American journal of medical genetics. Part A.

[5]  R. Hennekam,et al.  Plantar lipomatosis, unusual facies, and developmental delay: Confirmation of Pierpont syndrome , 2005, American journal of medical genetics. Part A.

[6]  R. Gorlin,et al.  Plantar lipomatosis, unusual facial phenotype and developmental delay: a new MCA/MR syndrome. , 1998, American journal of medical genetics.