A novel <scp>EZH2</scp> gene variant in a case of Weaver syndrome with postaxial polydactyly

Türkkahraman, Doğa; Sakarya, Atiye Nil Palancı; Randa, Nadide Cemre

doi:10.1002/ajmg.a.62189

Cited by 4 publications

(3 citation statements)

References 5 publications

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“…As such, it is important to perform routine MRI to obtain more information on diagnosed WS patients. Literature (Tatton-Brown et al, 2011;Gibson et al, 2012;Al-Salem et al, 2013;Tatton-Brown et al, 2013;Usemann et al, 2016;Suri and Dixit, 2017;Lui et al, 2018;Turkkahraman et al, 2021;Oh et al, It is often challenging to differentiate WS from other overgrowth syndromes, e.g., Sotos syndrome. Therefore, next-generation sequencing-targeted genetic analysis is crucial for making a definitive diagnosis.…”

Section: Discussionmentioning

confidence: 99%

“…Although families with an autosomal dominant inheritance pattern for WS have been reported, this rarely occurs [Tatton-Brown et al, 2011;Gibson et al, 2012]. Fifty-six patients with genetically confirmed WS have been reported to date [Gibson et al, 2012;Tatton-Brown et al, 2011Al-Salem et al, 2013;Usemann et al, 2016;Suri and Dixit, 2017;Lui et al, 2018;Turkkahraman et al, 2021;Oh et al, 2023]. An increased prevalence of neuroblastoma (NBL) has been reported in individuals with heterozygous pathogenic variants of EZH2.…”

Section: Introductionmentioning

confidence: 99%

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Expanding the Phenotypic and Genotypic Spectrum of Weaver Syndrome: A Missense Variant of the EZH2 Gene

Kendir-Demirkol,

Yeter,

Jenny

2023

Mol Syndromol

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Introduction: Weaver syndrome (WS) is a rare autosomal dominant disorder characterized by distinctive facial features, pre- and post-natal overgrowth, macrocephaly, and variable developmental delay. The characteristic facial features are ocular hypertelorism, a broad forehead, almond-shaped palpebral fissures and, in early childhood, large, fleshy ears, a pointed “stuck-on” chin with horizontal skin creases, and retrognathia. Heterozygous pathogenic/likely pathogenic variants in the enhancer of zeste homolog 2 (EZH2) gene are responsible for WS. Case Presentation: Here, we report a male patient with a heterozygous likely pathogenic variant in EZH2 gene who has tall stature, distinctive facial features, mild development delay, hypoxic-ischemic encephalopathy with a MRI finding of periventricular leukomalacia, gingival hypertrophy, and early onset high hypermetropia. Conclusion: This case demonstrates the importance of reporting detailed molecular and clinical findings in patients to expand the genotypic and phenotypic findings of this rare syndrome.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Expanding the Phenotypic and Genotypic Spectrum of Weaver Syndrome: A Missense Variant of the EZH2 Gene

Kendir-Demirkol,

Yeter,

Jenny

2023

Mol Syndromol

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“…There are different manifestations of polydactyly, 4 and it may be associated with other diseases or syndromes (Figure 1), including VACTERL (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities) association, Fanconi anemia, and trisomy diseases (with associated abnormalities of the GLI3 and SHH genes). 3,5 Several classifications of polydactyly have been described in the literature, some based on morphology and anatomy 6 and others, such as the classification by Lee et al, 7 founded on morphologic and radiographic appearance. Other authors report that polydactyly in the lower limbs can be tibial, peroneal, or central.…”

Section: Introductionmentioning

confidence: 99%

Operative Management of Y-Shaped Metatarsal with Biphalangeal Sixth Toe

Montaño-Jiménez,

Pérez-Belloso,

Muriel-Sánchez

et al. 2024

Adv Skin Wound Care

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Background In the literature, there is no consensus regarding the surgical management of postaxial polydactyly, and few cases of polymetatarsia with polydactyly have been reported. Treatment of the complete deformity will prevent further foot and gait disorders. Objective To identify literature relevant to the operative management of Y-shaped metatarsal with biphalangeal sixth toe and related skin and wound care to improve surgical treatment protocols from a clinical experience perspective. Data Sources The authors searched several electronic databases in December 2022 for articles related to postaxial polysyndactyly in the feet and polymetatarsia. Databases searched included PubMed, SciELO, ScienceDirect, Cochrane Database of Systematic Reviews, and Google Scholar gray literature. Study Selection Two independent researchers conducted the searches and read the article titles and abstracts. Studies were included if they were narrative reviews, case studies, or observational studies; written in English or Spanish; and published between 2012 and 2022. Nonhuman studies were excluded. Studies that met the inclusion criteria were fully evaluated. Disagreements between reviewers were resolved by consensus, and when there was no consensus, a senior researcher was consulted. Data Extraction The following data were extracted from the included studies using a standardized form: author and year of publication, study type, number of participants, sex, polydactyly location, polymetatarsia, type of polydactyly, participants’ history of hereditary associated diseases or malformations, treatment, removal criteria, and timing of surgery. Data Synthesis Authors evaluated 11 studies of postaxial polydactyly that included a total of 153 participants (64 men, 89 women). They also document their clinical experience with a surgical technique used in cases of bilateral postaxial polydactyly of the foot with a Y-shaped metatarsal with biphalangeal sixth toe. Conclusions Surgical correction with lateral removal of the sixth toe is a resolutive treatment to improve the functionality of the foot, its aesthetic appearance, and the patient’s quality of life. Case-specific treatment should be applied and tailored to meet the individual needs. The biomechanics of gait and shoe problems in these patients improve with surgical treatment, without presenting secondary aesthetic problems in skin care.

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Imagawa–Matsumoto syndrome: SUZ12‐related overgrowth disorder

et al. 2023

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The SUZ12 gene encodes a subunit of polycomb repressive complex 2 (PRC2) that is essential for development by silencing the expression of multiple genes. Germline heterozygous variants in SUZ12 have been found in Imagawa-Matsumoto syndrome (IMMAS) characterized by overgrowth and multiple dysmorphic features. Similarly, both EZH2 and EED also encode a subunit of PRC2 each and their pathogenic variants cause Weaver syndrome and Cohen-Gibson syndrome, respectively. Clinical manifestations of these syndromes significantly overlap, although their different prevalence rates have recently been noted: generalized overgrowth, intellectual disability, scoliosis, and excessive loose skin appear to be less prevalent in IMMAS than in the other two syndromes. We could not determine any apparent genotypephenotype correlation in IMMAS. The phenotype of neurofibromatosis type 1 arising from NF1 deletion was also shown to be modified by the deletion of SUZ12, 560 kb away. This review deepens our understanding of the clinical and genetic characteristics of IMMAS together with other overgrowth syndromes related to PRC2. We also report on a novel IMMAS patient carrying a splicing variant (c.1023+1G>C) in SUZ12. This patient had a milder phenotype than other previously reported IMMAS cases, with no macrocephaly or overgrowth phenotypes, highlighting the clinical variation in IMMAS.

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A novel EZH2 gene variant in a case of Weaver syndrome with postaxial polydactyly

Cited by 4 publications

References 5 publications

Expanding the Phenotypic and Genotypic Spectrum of Weaver Syndrome: A Missense Variant of the <i>EZH2</i> Gene

Expanding the Phenotypic and Genotypic Spectrum of Weaver Syndrome: A Missense Variant of the <i>EZH2</i> Gene

Operative Management of Y-Shaped Metatarsal with Biphalangeal Sixth Toe

Imagawa–Matsumoto syndrome: SUZ12‐related overgrowth disorder

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