Pierpont syndrome due to mutation c.1337A&gt;G in TBL1XR1 gene

Tesařová, Markéta; Baxová, A; Hansı́ková, Hana; Lambert, Lukáš; Vondráčková, Alžběta; Leiská, Alena; Zeman, Jiří

doi:10.1097/mcd.0000000000000416

Cited by 4 publications

(1 citation statement)

References 15 publications

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“…3 To date, less than 15 cases were reported, and its etiology was unknown until recently, when Heinen et al 7 identified a single amino acid substitution, c.1337A>G, responsible for the specific p.Tyr446Cys missense mutation in TBL1XR1 gene. [3][4][5][6]18 Since then, 2 other de novo missense mutations were found in 2 individuals with Pierpont syndrome features: c.974G > A; p.Cys325Tyr and c.1336 T > C; p.Tyr446His, both concerning the same functional and physical domains of WD40 protein. 19 The same p.Tyr446Cys sequence variant was identified in our patient.…”

Section: Discussionmentioning

confidence: 99%

Novel Arthrogryposis Multiplex Congenita Presentation in a Newborn With Pierpont Syndrome

Pereira-Nunes

Vilan

Grangeia

et al. 2023

Journal of Investigative Medicine High Impact Case Reports

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Pierpont syndrome is a rare and recently described multiple congenital anomaly syndrome, classically characterized by global developmental delay, distinctive facial dysmorphic features, and abnormal fat distribution in distal limbs. Only few cases were previously documented. We report a case of a term male neonate admitted to the neonatal intensive care unit because of feeding difficulties. Intrauterine growth restriction, microcephaly, and bilateral equinovarus foot were diagnosed in the second trimester, and prenatal array comparative genomic hybridization showed no abnormality. Physical examination revealed bilateral flexion deformities of wrists, elbows, knees and clubfoot, large hands and feet, deep palmar and plantar grooves, and calcaneo-plantar fat pads. Craniofacial dysmorphism, axial hypotonia, and hypoactivity were also observed. Due to the presence of congenital and non-progressive joint contractures, arthrogryposis multiplex congenita (AMC) was considered. A comprehensive diagnostic workup, including a Next Generation Sequencing target panel, was performed but did not establish a diagnosis. The clinical exome identified an heterozygous pathogenic variant in the TBL1XR1 gene (NM_001321194.1: c.1337A>G, p.[Tyr446Cys]), allowing Pierpont syndrome diagnosis. Our case stands out for reporting the novel AMC presentation in a Pierpont syndrome newborn. The broader and precocious genetic testing proved to be an essential clarifying diagnostic tool. Our patient supports the relation between the p.Tyr446Cys sequence variant in TBL1XR1 gene with this rare syndrome, reinforcing its association with a distinctive and recognizable phenotype, as well as expanding its clinical features to include AMC.

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Section: Discussionmentioning

confidence: 99%

Novel Arthrogryposis Multiplex Congenita Presentation in a Newborn With Pierpont Syndrome

Pereira-Nunes

Vilan

Grangeia

et al. 2023

Journal of Investigative Medicine High Impact Case Reports

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Rare variant of TBL1XR1 in West syndrome: A case report

Shen

Yuan

Luo

et al. 2022

Molec Gen & Gen Med

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Background West syndrome (WS) is an epileptic encephalopathy (EE) that begins in children 4–7 months of age (in rare cases older than 2 years). To date, over 30 genes that have been reported to be related to WS. Reports involving the extremely rare pathogenic gene, transducin beta‐like 1‐X‐ linked receptor 1(TBL1XR1) are quite limited. Methods We performed exome sequencing (ES) of family trios for this infant. We also collected and summarized the clinical data for reported heterozygous germline variants of TBL1XR1. Moreover, we reviewed all published cases and summarized the clinical features and genetic variants of TBL1XR1. Results ES revealed a de novo variant in TBL1XR1 [NM_024665.5: exon4: c.187G > A (p.Glu63Lys)]. This variant was classified as likely pathogenic according to the ACMG (American College of Medical Genetics and Genomics) guidelines and was verified by Sanger sequencing. Further conservation analyses revealed a high conservation among several species. There was clinical heterogeneity among all patients with TBL1XR1‐related West syndrome. Conclusion Our results expand the pathogenic variant spectrum of TBL1XR1 and strengthen the pathogenic evidence of TBL1XR1 in West syndrome.

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Expanding the genotypic and phenotypic spectrum associated with TBL1XR1 de novo variants

Ren,

Zheng,

et al. 2023

Gene

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Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene

Abstract: Short stature Microcephaly with mid-facial dysplasia Deep set eyes Bilateral ptosis Bulbous nose with broad nostrils Narrow upper lip Low set and backwards rotated ears Abnormal palmar and plantar fat distribution

Cited by 4 publications

References 15 publications

Novel Arthrogryposis Multiplex Congenita Presentation in a Newborn With Pierpont Syndrome

Novel Arthrogryposis Multiplex Congenita Presentation in a Newborn With Pierpont Syndrome

Rare variant of TBL1XR1 in West syndrome: A case report

Expanding the genotypic and phenotypic spectrum associated with TBL1XR1 de novo variants

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