Weaver syndrome

02/01/2017 - "Pathogenic variants in EZH2, a histone methyltransferase, have previously been identified as a cause of Weaver syndrome. "
12/01/2013 - "In 2011, mutations in the histone methyltransferase, EZH2, were shown to cause Weaver syndrome. "
12/01/2011 - "We performed exome sequencing in four individuals with Weaver syndrome, identifying a mutation in the histone methyltransferase, EZH2, in each case. "
01/01/2021 - "These histone methyltransferase activities of PRC2 are deregulated in several human cancers and certain developmental disorders, such as Weaver Syndrome. "
01/01/2020 - "Weaver syndrome (WS), an overgrowth/intellectual disability syndrome (OGID), is caused by pathogenic variants in the histone methyltransferase EZH2, which encodes a core component of the Polycomb repressive complex-2 (PRC2). "

12/01/2019 - "Constitutional pathogenic variants in its component proteins have been found to cause two established overgrowth syndromes: Weaver syndrome (EZH2-related overgrowth) and Cohen-Gibson syndrome (EED-related overgrowth). "
06/01/2015 - "In a patient suspected clinically to have Weaver syndrome, we ruled out mutations in EZH2 and NSD1, then identified a previously undescribed de novo mutation in EZH2's partner protein EED. "
03/01/2016 - "Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro."
07/14/2023 - "As the genetic etiology of these disorders have been elucidated, a surprising pattern has emerged; multiple monogenic overgrowth syndromes result from variants in epigenetic regulators: variants in histone methyltransferases NSD1 and EZH2 cause Sotos syndrome and Weaver syndrome respectively; variants in DNA methyltransferase DNMT3A cause Tatton-Brown-Rahman syndrome; variants in chromatin remodeler CHD8 cause an autism spectrum disorder with overgrowth; while very recently, a variant in histone reader protein SPIN4 was identified in a new X-linked overgrowth disorder. "

01/01/2023 - "The variant, p.A678G, is in the SET domain, known for its methyltransferase activity, and an analogous somatic or germline mutation in EZH2 has been reported in patients with B-cell lymphoma or Weaver syndrome, respectively. "
11/28/2023 - "Weaver syndrome is a Mendelian disorder of the epigenetic machinery (MDEM) caused by germline pathogenic variants in EZH2, which encodes the predominant H3K27 methyltransferase and key enzymatic component of Polycomb repressive complex 2 (PRC2). "
06/30/2023 - "Weaver syndrome is a Mendelian disorder of the epigenetic machinery (MDEM) caused by germline pathogenic variants in EZH2, which encodes the predominant H3K27 methyltransferase and key enzymatic component of Polycomb repressive complex 2 (PRC2). "
07/14/2023 - "As the genetic etiology of these disorders have been elucidated, a surprising pattern has emerged; multiple monogenic overgrowth syndromes result from variants in epigenetic regulators: variants in histone methyltransferases NSD1 and EZH2 cause Sotos syndrome and Weaver syndrome respectively; variants in DNA methyltransferase DNMT3A cause Tatton-Brown-Rahman syndrome; variants in chromatin remodeler CHD8 cause an autism spectrum disorder with overgrowth; while very recently, a variant in histone reader protein SPIN4 was identified in a new X-linked overgrowth disorder. "

01/01/2017 - "Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome."
11/28/2023 - "Weaver syndrome is a Mendelian disorder of the epigenetic machinery (MDEM) caused by germline pathogenic variants in EZH2, which encodes the predominant H3K27 methyltransferase and key enzymatic component of Polycomb repressive complex 2 (PRC2). "
06/30/2023 - "Weaver syndrome is a Mendelian disorder of the epigenetic machinery (MDEM) caused by germline pathogenic variants in EZH2, which encodes the predominant H3K27 methyltransferase and key enzymatic component of Polycomb repressive complex 2 (PRC2). "

01/01/2016 - "Anesthetic management of a patient with Weaver syndrome undergoing emergency evacuation of extra-dural hematoma: A case report and review of the literature."
10/01/2005 - "The prime anesthetic problem reported in children with Weaver syndrome is difficulty with tracheal intubation, resulting in part from relative micrognathia, short neck, and an anterior and cephalad position of the larynx. "

01/01/2017 - "Weaver syndrome (WS) is a rare congenital overgrowth disorder caused by heterozygous mutations in EZH2 (enhancer of zeste homolog 2) or EED (embryonic ectoderm development). "
05/01/2016 - "Mutations in the enhancer of zeste homolog 2 (EZH2) gene were found to cause Weaver syndrome, and have been associated with hematologic malignancies, including acute myeloid leukemia (AML). "

10/04/1999 - "The expression of GIRK2, a G protein-related inward rectifying K(+) channel responsible for the weaver syndrome, was investigated. "

01/01/2019 - "Allelic frequencies of the markers associated with illness were obtained for the following: citrullinaemia, spinal dysmyelination, spinal muscular atrophy, Brows Swiss fertility haplotype 2, congenital muscular dystonia, epidermolysis bullosa, Pompes, maple syrup urine, syndactyly, Weaver syndrome, crooked tail, deficiency of uridine monophosphate synthase, hypotrichosis, Marfan syndrome, and weak calf syndrome. "

07/14/2023 - "As the genetic etiology of these disorders have been elucidated, a surprising pattern has emerged; multiple monogenic overgrowth syndromes result from variants in epigenetic regulators: variants in histone methyltransferases NSD1 and EZH2 cause Sotos syndrome and Weaver syndrome respectively; variants in DNA methyltransferase DNMT3A cause Tatton-Brown-Rahman syndrome; variants in chromatin remodeler CHD8 cause an autism spectrum disorder with overgrowth; while very recently, a variant in histone reader protein SPIN4 was identified in a new X-linked overgrowth disorder. "

01/01/2002 - "We report a girl with Weaver syndrome whose final height predictions were within normal limits according to the standard prediction models, who had to be eventually treated with high doses of estrogen in order to keep her final height within reasonable limits. "

10/13/2021 - "Commentary: Posteromedial Hypothalamic Deep Brain Stimulation for Refractory Aggressiveness in a Patient With Weaver Syndrome: Clinical, Technical Report, and Operative Video."
01/01/2021 - "Posteromedial Hypothalamic Deep Brain Stimulation for Refractory Aggressiveness in a Patient With Weaver Syndrome: Clinical, Technical Report and Operative Video."
01/01/2021 - "Commentary: Posteromedial Hypothalamic Deep Brain Stimulation for Refractory Aggressiveness in a Patient With Weaver Syndrome: Clinical, Technical Report and Operative Video."

01/01/2018 - "A 22-year-old woman with diagnosis of Weaver syndrome was scheduled for bilateral mammoplasty and resection of unilateral accessory breast tissue resection. "
01/01/2018 - "Clinically suspected anaphylaxis induced by sugammadex in a patient with Weaver syndrome undergoing restrictive mammoplasty surgery: A case report with the literature review."

01/01/2022 - "Syndrome in family #10 Weaver syndrome Crown halo traction Redo C1-4 dorsal rib graft fusion None Miami J collar 2 years Fused 3° 10° 2 5 Neuroblastoma age 3 months. "
01/01/2022 - "Syndromes encountered were spondyloepiphyseal dysplasia (SED) 4, spondylometaphyseal dysplasia 1, unnamed collagen abnormality syndrome 1, osteogenesis imperfecta (OI) 2, Aarskog syndrome 1, Weaver syndrome 1, Larsen syndrome 1, multiple cervical level disconnection syndrome 1, Klippel-Feil 3, congenital absence of C2 pars 4. Non-syndromic cases; 2 with neurofibromatosis (NF1) and prevertebral tumors, fibromatosis 1, spontaneous kyphosis 1, and postlaminectomy 4. Factors considered were age, pathology, flexibility on cervical spine dynamic films, reduction with traction and spinal cord compression. "

10/01/2008 - "This is the first reported case of Weaver syndrome treated with partial glossectomy (tongue reduction). "

01/01/2022 - "Had C1-C3 posterior decompression and fusion elsewhere Progressive kyphosis Worse weakness Bend in fusion C1-2 40° No No #9 1996 11 years M Aarskog syndrome Neck pain with limited neck motion Cervical myelopathy Psychomotor delay C4-5 spondylolysis C5-6 kyphosis C5 30° No Yes 3 days #10 1989 3½ years F Weaver syndrome Quadriparesis age 2 years. "