Dataset Information

ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.

ABSTRACT: Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome is caused by de novo loss-of-function variants in the SON gene (MIM #617140). This multisystemic disorder is characterized by intellectual disability, seizures, abnormal brain imaging, variable dysmorphic features, and various congenital anomalies. The wide application and increasing accessibility of whole exome sequencing (WES) has helped to identify new cases of ZTTK syndrome over the last few years. To date, there have been approximately 45 cases reported in the literature. Here, we describe 15 additional individuals with variants in the SON gene, including those with missense variants bringing the total number of known cases to 60. We have reviewed the clinical and molecular data of these new cases and all previously reported cases to further delineate the most common as well as emerging clinical findings related to this syndrome. Furthermore, we aim to delineate any genotype-phenotype correlations specifically for a recurring pathogenic four base pair deletion (c.5753_5756del) along with discussing the impact of missense variants seen in the SON gene.

SUBMITTER: Kushary ST

PROVIDER: S-EPMC8595531 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.

Kushary Sulagna Tina ST Revah-Politi Anya A Barua Subit S Ganapathi Mythily M Accogli Andrea A Aggarwal Vimla V Brunetti-Pierri Nicola N Cappuccio Gerarda G Capra Valeria V Fagerberg Christina R CR Gazdagh Gabriella G Guzman Edwin E Hadonou Medard M Harrison Victoria V Havelund Kathrine K Iancu Daniela D Kraus Alison A Lippa Natalie C NC Mansukhani Mahesh M McBrian Danielle D McEntagart Meriel M Pacio-Míguez Marta M Palomares-Bralo María M Pottinger Carrie C Ruivenkamp Claudia A L CAL Sacco Oliviero O Santen Gijs W E GWE Santos-Simarro Fernando F Scala Marcello M Short John J Sørensen Kristina P KP Woods Christopher G CG Anyane Yeboa Kwame K

American journal of medical genetics. Part A 20210731 12

Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome is caused by de novo loss-of-function variants in the SON gene (MIM #617140). This multisystemic disorder is characterized by intellectual disability, seizures, abnormal brain imaging, variable dysmorphic features, and various congenital anomalies. The wide application and increasing accessibility of whole exome sequencing (WES) has helped to identify new cases of ZTTK syndrome over the last few years. To date, there have been approximately 45 cases repo ...[more]

PMID: 34331327

Similar Datasets

Project description:Objective: Glomus tumor is a relatively uncommon soft tissue neoplasm predominantly occurring in upper extremity (fingers), less reported in stomach. This study aimed to discuss the clinicopathologic features of gastric glomus tumor (GGT) and then provide reference for clinical practice. Methods: A retrospective analysis of all cases pathologically diagnosed of GGT was performed, pathological findings were correlated with clinical information, immunohistochemical studies, next-generation sequencing, and patient follow-ups. A review of literature by searching similar cases was conducted to summarize previous knowledge of GGTs. Results: Our study identified 15 GGTs included 5 males and 10 females, aged between 35-75 years old (median, 49 years old). The tumor was located to the gastric corpus in 6 cases (40%) and to the antrum in 9 cases (60%). The maximum tumor diameter ranged between 1-4 cm (median, 1.5 cm). There were 11 cases (73%) of solid glomus tumor, 3 cases (20%) of mixture of solid glomus tumor and glomangioma, and 1 case (7%) of glomangiomyoma. Partial spindle cell area was observed in 3 cases (20%), moderate cellular atypia in 1 case (7%), atypical mitosis in 1 case (7%), vascular invasion in 5 cases (33%), neural invasion in 6 cases (40%) and tumor necrosis in 1 case (7%). Tumor cells expressed Collagen type IV, α-smooth muscle actin (α-SMA), and synaptophysin in most cases. The Ki67 index varied from 1% to 30%. Next-generation sequencing reported EGFR, PIK3CA, KEAP1 and TP53 mutation. The outcome information was obtained in 12 (80%) cases, followed for 6-63 months, 11 patients (92%) had tumor-free survival and 1 patient (8%) developed liver metastasis 26 months after surgery. Literature review obtained 16 previously reported malignant GGT cases. In terms of the total 31 cases, univariate analysis revealed that the atypical mitosis (OS: p = 0.009; DFS: p = 0.010) and severe cellular atypia (OS: p = 0.007; DFS: p = 0.004) were significantly associated with poor prognosis (patient death). Conclusion: GGT is indolent, while long-term close follow-up should be required in the presence of increasing number of risk factors. Malignant GGT is relatively uncommon and predisposes to liver metastasis, calling for accumulation of large-sample data and experience.

Dataset Information

ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.

Publications

ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets