Choroid plexus papilloma and Pierpont syndrome

Vadivelu, Sudhakar; Edelman, Morris; Schneider, Steven J.; Mittler, Mark A.

doi:10.3171/2012.10.peds12219

Cited by 6 publications

(6 citation statements)

References 10 publications

(10 reference statements)

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“… 1 Two similar patients were subsequently reported, including one with a choroid plexus papilloma, whereupon the condition was named Pierpont syndrome. 2 3 While several patients resembling Pierpont syndrome have been reported, 4 clinical re-evaluation and molecular analyses have shown that they had either Coffin–Siris 5 or Wiedemann–Steiner syndrome (H. Brunner, personal communication 2013). Initially this caused uncertainty about the phenotype defining Pierpont syndrome, but the characteristics of both Wiedemann–Steiner syndrome and Coffin–Siris syndrome are better known nowadays and allow easy differentiation from the phenotype in the reported patients with Pierpont syndrome.…”

Section: Introductionmentioning

confidence: 99%

“…Initially this caused uncertainty about the phenotype defining Pierpont syndrome, but the characteristics of both Wiedemann–Steiner syndrome and Coffin–Siris syndrome are better known nowadays and allow easy differentiation from the phenotype in the reported patients with Pierpont syndrome. 2 3 Until now, the cause of Pierpont syndrome has remained unknown. However, de novo autosomal-dominant mutations were suspected to be the most likely cause.…”

Section: Introductionmentioning

confidence: 99%

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A specific mutation inTBL1XR1causes Pierpont syndrome

et al. 2016

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BackgroundThe combination of developmental delay, facial characteristics, hearing loss and abnormal fat distribution in the distal limbs is known as Pierpont syndrome. The aim of the present study was to detect and study the cause of Pierpont syndrome.MethodsWe used whole-exome sequencing to analyse four unrelated individuals with Pierpont syndrome, and Sanger sequencing in two other unrelated affected individuals. Expression of mRNA of the wild-type candidate gene was analysed in human postmortem brain specimens, adipose tissue, muscle and liver. Expression of RNA in lymphocytes in patients and controls was additionally analysed. The variant protein was expressed in, and purified from, HEK293 cells to assess its effect on protein folding and function.ResultsWe identified a single heterozygous missense variant, c.1337A>C (p.Tyr446Cys), in transducin β-like 1 X-linked receptor 1 (TBL1XR1) as disease-causing in all patients. TBL1XR1 mRNA expression was demonstrated in pituitary, hypothalamus, white and brown adipose tissue, muscle and liver. mRNA expression is lower in lymphocytes of two patients compared with the four controls. The mutant TBL1XR1 protein assembled correctly into the nuclear receptor corepressor (NCoR)/ silencing mediator for retinoid and thyroid receptors (SMRT) complex, suggesting a dominant-negative mechanism. This contrasts with loss-of-function germline TBL1XR1 deletions and other TBL1XR1 mutations that have been implicated in autism. However, autism is not present in individuals with Pierpont syndrome.ConclusionsThis study identifies a specific TBL1XR1 mutation as the cause of Pierpont syndrome. Deletions and other mutations in TBL1XR1 can cause autism. The marked differences between Pierpont patients with the p.Tyr446Cys mutation and individuals with other mutations and whole gene deletions indicate a specific, but as yet unknown, disease mechanism of the TBL1XR1 p.Tyr446Cys mutation.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

A specific mutation inTBL1XR1causes Pierpont syndrome

et al. 2016

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“…Otherwise, one patient has been described in literature with molecular and clinical Pierpont syndrome associated with an oncological process: an intraventricular choroid plexus papilloma (Vadivelu et al, ). It is the only case reported.…”

Section: Discussionmentioning

confidence: 99%

“…Several malformations are described in the literature, such as Arnold‐Chiari, microcornea, retinal coloboma, hernia, anal anomalies or cryptorchidism. Two other patients with a similar phenotype were subsequently reported, including a 6‐month‐old boy with a choroid plexus papilloma (Oudesluijs, Hordijk, Boon, Sijens, & Hennekam, ; Vadivelu, Edelman, Schneider, & Mittler, ). Burkitt‐Wrigth et al reported several patients resembling Pierpont syndrome, but clinical reevaluation and molecular analyses showed that they had either Coffin‐Siris or Wiedemann‐Steiner syndrome (Burkitt‐Wright et al, ).…”

Section: Introductionmentioning

confidence: 96%

TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation

Lemattre

Thévenon

Duffourd

et al. 2018

American J of Med Genetics Pt A

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Pierpont syndrome is a rare and sporadic syndrome, including developmental delay, facial characteristics, and abnormal extremities. Recently, a recurrent de novo TBL1XR1 variant (c.1337A > G; p.Tyr446Cys) has been identified in eight patients by whole‐exome sequencing. A dominant‐negative effect of this mutation is strongly suspected, since patients with TBL1XR1 deletion and other variants predicting loss of function do not share the same phenotype. We report two patients with typical Pierpont‐like syndrome features. Exome sequencing allowed identifying a de novo heterozygous missense TBL1XR1 variant in both patients, different from those already reported: p.Cys325Tyr and p.Tyr446His. The localization of these mutations and clinical features of Pierpont‐like syndrome suggest that their functional consequences are comparable with the recurrent mutation previously described, and provided additional data to understand molecular mechanisms of TBL1XR1 anomalies.

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“…The combined characteristics of plantar lipomatosis, unusual facies, and developmental delay are known as Pierpont syndrome [PS]. There have been a total of ten cases of PS reported since its initial description [ 1 – 3 ]. Key characteristics of the syndrome include neurodevelopmental delay, dysmorphic facial features, fat pads on feet and hands, and feeding difficulties.…”

Section: Introductionmentioning

confidence: 99%

Increased homozygosity in the first Hispanic patient with plantar lipomatosis, unusual facies, and developmental delay (Pierpont syndrome): a case report

et al. 2016

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BackgroundPierpont syndrome was first described in 1998 with key characteristics including developmental delay, dysmorphic facial features, fat pads on hands and feet, and feeding difficulties. To date the mechanism of inheritance is unknown. Nine out of ten previously described patients with Pierpont syndrome were boys. This is the first report of a case of a non-white patient with Pierpont syndrome and she is the second female patient to be described as having Pierpont syndrome.Case presentationOur patient is a 16-month-old Hispanic girl with extreme developmental delay, microcephaly, large ears, short and thick upper lip, broad philtrum, widely spaced teeth, constipation, dysphagia, fat pads on feet and hands, autistic behavior and seizure-like episodes. She had a normal karyotype (46,XX), and array testing showed greater than 8 % homozygosity with otherwise normal results. Genes within these areas of homozygosity may provide clues to an etiology and suggest autosomal recessive inheritance. This case report highlights the possibility of ethnic variations in this syndrome’s presentation, which may have ramifications in uncovering the pathogenesis as well as expanding the phenotype.ConclusionPierpont syndrome should be considered in the evaluation of children with the described features, regardless of their gender and ethnicity.

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Choroid plexus papilloma and Pierpont syndrome

Cited by 6 publications

References 10 publications

A specific mutation inTBL1XR1causes Pierpont syndrome

A specific mutation inTBL1XR1causes Pierpont syndrome

TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation

Increased homozygosity in the first Hispanic patient with plantar lipomatosis, unusual facies, and developmental delay (Pierpont syndrome): a case report

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