Syndromes Stankiewicz-Isidor syndrome Associated Disorders DD/NDD, ASD, EPS Genetic Category Syndromic Relevance to Autism Six de novo deletions and four de novo loss-of-function point mutations in the PSMD12 gene were identified in unrelated individuals presenting [gene.sfari.org]

[…] variants: 13 Associated CNVs: 8 Evidence score: 3 Associated Disorders: Summary Sequence Variants Relevance to Autism Six de novo deletions and four de novo loss-of-function point mutations in the PSMD12 gene were identified in unrelated individuals presenting [autism.mindspec.org]

Obesity, a major comorbidity present in 50% of the carriers by the age of 7 years, does not correlate with FSIQ or any behavioural trait. Seizures are present in 24% of carriers and occur independently of other symptoms. [jmg.bmj.com]

Despite similar presentation, the genetic basis of these two syndromes differs. [frontiersin.org]

[…] bp, 1kb, 5 kb 100.0% 100.0% Heteroplasmic (50%) 500 bp, 1kb, 5 kb 100.0% 100.0% Heteroplasmic (30%) 500 bp, 1kb, 5 kb 100.0% 100.0% Heteroplasmic (20%) 500 bp, 1kb, 5 kb 99.7% 100.0% Heteroplasmic (10%) 500 bp, 1kb, 5 kb 99.0% 100.0% The performance presented [blueprintgenetics.com]

• Disability

  Affiliated tissues include pineal and heart, and related phenotypes are intellectual disability and seizure UniProtKB/Swiss-Prot: 73 A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders [malacards.org]

  Mendelian Rare Diseases STANKIEWICZ-ISIDOR SYNDROME; STISS Description Stankiewicz-Isidor syndrome (STISS) is a neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial [mendelian.co]

  Stankiewicz-Isidor syndrome (STISS) is a neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital [ncbi.nlm.nih.gov]

  De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism. [pubmed.ncbi.nlm.nih.gov]

  Through whole‐exome sequencing in six unrelated nonconsanguineous families having a sporadic case of intellectual disability, we identified six novel de novo truncating mutations in CHAMP1: c.1880C>G p.(Ser627*), c.1489C>T; p. [cnjournals.com]

• Developmental Delay

  PURPOSE: Haploinsufficiency of PSMD12 has been reported in individuals with neurodevelopmental phenotypes, including developmental delay/intellectual disability (DD/ID), facial dysmorphism, and congenital malformations, defined as Stankiewicz-Isidor syndrome [rti.org]

  Purpose: Haploinsufficiency of PSMD12 has been reported in individuals with neurodevelopmental phenotypes, including developmental delay/intellectual disability (DD/ID), facial dysmorphism, and congenital malformations, defined as Stankiewicz-Isidor syndrome [scholars.uab.edu]

  […] speech and language development Global developmental delay Hyperactivity Intellectual disability Motor delay Seizure Ear malformation Hearing impairment Low-set ears IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; [ncbi.nlm.nih.gov]

  2.84 Latest signed off version: v2.2 (13 Feb 2020) Component of the following Super Panels: Paediatric disorders review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sources DD-Gene2Phenotype Expert Review Red Phenotypes Global Developmental [panelapp.genomicsengland.co.uk]

  Genes related to Stankiewicz-isidor Syndrome; Stiss PSMD12 View recommended genes panels Clinical Features Top most frequent phenotypes and symptoms related to Stankiewicz-isidor Syndrome; Stiss Intellectual disability Seizures Global developmental delay [mendelian.co]

• Dysostosis

  Treacher Collins syndrome (TCS) is a frequent cause of mandibulofacial dysostosis. To date, TCS‐causing mutations in three genes, namely TCOF1, POLR1D, and POLR1C have been identified. [cnjournals.com]

  Garib, D.G., Munnich, A., Ernfors, P., Hufnagel, R.B., Hopkin, R.J., Kurihara, H., Saal, H.M., Weaver, D.D., Katsanis, N., Lyonnet, S., Golzio, C., Clouthier, D.E., Amiel, J. (2015) Mutations in the endothelin receptor type A cause mandibulofacial dysostosis [zfin.org]

• Rigor

  Incorporation of rigorous quality control steps throughout the workflow of the pipeline ensures the consistency, validity and accuracy of results. Our pipeline is streamlined to maximize sensitivity without sacrificing specificity. [blueprintgenetics.com]

  Current Score Scoring History 3rd Party Scoring SFARI Gene score Score Delta: Score remained at 1S We considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, [gene.sfari.org]

• Trisomy 21

  Trisomy 21 consistently activates the interferon response. ELife. 2016; 5e16220https://doi.org/10.7554/eLife.16220 Waugh K.A. Araya P. Pandey A. et al. [gimjournal.org]

• Small Head

  Common characteristics that occur in people with a 16p11.2 duplication include a low weight; a small head size (microcephaly); and developmental delay, especially in speech and language. [medlineplus.gov]

• Global Developmental Delay

  […] speech and language development Global developmental delay Hyperactivity Intellectual disability Motor delay Seizure Ear malformation Hearing impairment Low-set ears IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; [ncbi.nlm.nih.gov]

  Developmental Delay, Multiple Malformations PSMD12 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.1771 Latest signed off version: v3.2 (13 Feb 2020) Component of the following [panelapp.genomicsengland.co.uk]

  Genes related to Stankiewicz-isidor Syndrome; Stiss PSMD12 View recommended genes panels Clinical Features Top most frequent phenotypes and symptoms related to Stankiewicz-isidor Syndrome; Stiss Intellectual disability Seizures Global developmental delay [mendelian.co]

  Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet. 2010 May;47(5):332-41. doi: 10.1136/jmg.2009.073015. Epub 2009 Nov 12. [medlineplus.gov]

• Based on expert opinion, workup for tall stature that exceeds the individual's mid-parental height should include assessment of growth velocity and should consider full blood counts, complete biochemical analysis, IGF-I, IGFBP-3, free T4, and TSH, [frontiersin.org]

This website was created to share and collect information about the clinical spectrum, management options and research projects in order to gather more knowledge and provide better treatment of patients with mutations in the PSMD12 gene. [humandiseasegenes.nl]

Successful treatment of a novel type I interferonopathy due to a de novo PSMB9 gene mutation with a Janus kinase inhibitor. J Allergy Clin Immunol. 2021; 148: 639-644https://doi.org/10.1016/j.jaci.2021.03.010 Malentacchi F. Pizzamiglio S. [gimjournal.org]

Surgical treatment of macroglossia in patients with Beckwith-Wiedemann syndrome: a 20-year experience and review of the literature. [frontiersin.org]

Minoxidil versus placebo in the treatment of arterial wall hypertrophy in children with Williams Beuren Syndrome: a randomized controlled trial. BMC Pediatr. 2019 May 28;19(1):170. doi: 10.1186/s12887-019-1544-1. [neuvacod.labo.univ-poitiers.fr]

There are, however, features likely to be associated with the deletion which, in most cases, do not require treatment such as vertebral abnormalities (hemivertebrae or kyphoscoliosis affect ∼20% of carriers). [jmg.bmj.com]

Sex Chromosome Aneuploidies and Copy Number variants: a further explanation for neurodevelopmental prognosis variability? Eur J Human Genet 2017. 00, 1-5. doi:10.1038/ejhg.2017.93. [neuvacod.labo.univ-poitiers.fr]

Due to the AV fistula, high-output heart failure can develop in about 31% of cases and almost 10% manifest distal arterial ischemia, making the overall prognosis of this syndrome worse than KTS (103). [frontiersin.org]

We explore disease etiology by assessing patient cells and CRISPR/Cas9-engineered cell clones for various cellular pathways and inflammatory status. RESULTS: The expressivity of most clinical features in STISS is highly variable. [rti.org]

We explore disease etiology by assessing patient cells and CRISPR/Cas9-engineered cell clones for various cellular pathways and inflammatory status. Results: The expressivity of most clinical features in STISS is highly variable. [scholars.uab.edu]

We explore disease etiology by assessing patient cells and CRISPR/Cas9-engineered cell clones for various cellular pathways and inflammatory status.ResultsThe expressivity of most clinical features in STISS is highly variable. [cnjournals.com]

We explore disease etiology by assessing patient cells and CRISPR/Cas9-engineered cell clones for various cellular pathways and inflammatory status. RESULTS The expressivity of most clinical features in STISS is highly variable. [x-mol.com]

The dashed lines represent the 3rd and 97th Center for Disease Control and Prevention (CDC) centile, while the dotted lines pinpoint the thresholds for underweight (BMI=18.5), obesity (30), and morbid obesity (40). [jmg.bmj.com]