Clark‐Baraitser syndrome is associated with a nonsense alteration in the autosomal gene <i>TRIP12</i>

Louie, Raymond J.; Friez, Michael J.; Skinner, Cindy; Baraitser, M; Clark, Robin D.; Schwartz, Charles E.; Stevenson, Roger E.

doi:10.1002/ajmg.a.61443

Cited by 12 publications

(14 citation statements)

References 6 publications

(10 reference statements)

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“…TRIP12 pathogenic variants have been identified in the form of heterozygous copy number variations and single nucleotide variations (Bramswig et al, 2017;Zhang et al, 2017;Louie et al, 2019). Bramswig et al (2017) reports 11 patients, some of which had previously been reported by Lelieveld et al, 2016 andIossifov et al, 2014. The data of which is summarized in In conclusion, we report two cases of patients with ID, ASD, and facial dysmorphism who have novel de novo TRIP12 gene variants identified.…”

Section: Discussionmentioning

confidence: 75%

“…Pathogenic variants in TRIP12 were identified as genetic cause for ID (Bramswig et al, 2017). To date, a total of 22 patients with ID and/or ASD and/or dysmorphic features have been identified to have TRIP12 variants (Zhang et al, 2017;Bramswig et al, 2017;Louie et al, 2019).…”

Section: Introductionmentioning

confidence: 99%

“…These variants included 6 copy number variants (5 microdeletions and 1 translocation), and 14 single nucleotide variants (8 truncating, 6 missense), and all showed loss of function on tissue expression studies (Zhang et al, 2017;Louie et al, 2019). About 74% patients had ASD.…”

Section: Introductionmentioning

confidence: 99%

“…reported as well as expand on the phenotypes associated with TRIP12 variations. A summary from previously reported patients(Zhang et al, 2017;Bramswig et al, 2017;Louie et al, 2019) is included in…”

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confidence: 99%

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Novel de novo TRIP12 mutation reveals variable phenotypic presentation while emphasizing core features of TRIP12 variations

Donoghue

Garrity

Ziolkowski

et al. 2020

American J of Med Genetics Pt A

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Intellectual disability (ID) is a complicated and multifactorial condition often with an unclear cause. Advancements in diagnostic techniques have identified genetic causes in a significant proportion. Pathogenic variants in TRIP12, encoding for an E3 ligand in the ubiquitin-protease pathway, have previously been identified as a cause of ID with autistic behavior and dysmorphic features. We report two unrelated patients with de novo mutations in TRIP12 and diagnoses of global developmental delay, autism spectrum disorder and dysmorphic features, as well as a range of other characteristics. Exome sequencing was utilized as part of an extensive genetic workup for both individuals. The genotypic and phenotypic data for both patients has been collated with previously reported data. Epilepsy was noted in about 20% published cases. One of our patents had epilepsy. These cases highlight the variable phenotypic presentations of TRIP12 variations while emphasizing the core features of ID and speech delay, with or without autistic features and epilepsy.

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Section: Discussionmentioning

confidence: 75%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

mentioning

confidence: 99%

See 2 more Smart Citations

Novel de novo TRIP12 mutation reveals variable phenotypic presentation while emphasizing core features of TRIP12 variations

Donoghue

Garrity

Ziolkowski

et al. 2020

American J of Med Genetics Pt A

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“…Thyroid hormone receptor interacting protein 12 (TRIP12) is a human protein homologous to the E6-AP carboxyl terminus (HECT) domain E3 ubiquitin ligase and is involved in cell cycle progression and the maintenance of chromosome integrity 1 . TRIP12 (MIM604506) haploinsufficiency has been reported to cause developmental delay, autism spectrum disorder (ASD), and facial dysmorphisms, which are collectively named Clark-Baraitser syndrome (MIM #617752) [2][3][4] .…”

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confidence: 99%

De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes

et al. 2020

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We report a patient with developmental delay, extremely short stature, small hands, dysmorphic facial features, hearing loss, and epilepsy carrying a de novo 2.76-Mb deletion of 2q36.3q37.1, including TRIP12 and NPPC. TRIP12 haploinsufficiency causes developmental delay with isolated dysmorphic facial features, whereas NPPC haploinsufficiency causes short stature and small hands. This is the first report of a unique phenotype, which is secondary to a microdeletion encompassing TRIP12 and NPPC.

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X‐Linked intellectual disability update 2022

Schwartz

Louie

Toutain

et al. 2022

American J of Med Genetics Pt A

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Genes that are involved in the transcription process, mitochondrial function, glycoprotein metabolism, and ubiquitination dominate the list of 21 new genes associated with X‐linked intellectual disability since the last update in 2017. The new genes were identified by sequencing of candidate genes (2), the entire X‐chromosome (2), the whole exome (15), or the whole genome (2). With these additions, 42 (21%) of the 199 named XLID syndromes and 27 (25%) of the 108 numbered nonsyndromic XLID families remain to be resolved at the molecular level. Although the pace of discovery of new XLID genes has slowed during the past 5 years, the density of genes on the X chromosome that cause intellectual disability still appears to be twice the density of intellectual disability genes on the autosomes.

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Clark‐Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12

Cited by 12 publications

References 6 publications

Novel de novo TRIP12 mutation reveals variable phenotypic presentation while emphasizing core features of TRIP12 variations

Novel de novo TRIP12 mutation reveals variable phenotypic presentation while emphasizing core features of TRIP12 variations

De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes

X‐Linked intellectual disability update 2022

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