A de novo heterozygous variant in the <i>SON</i> gene is associated with Zhu‐Tokita‐Takenouchi‐Kim syndrome

Liu, Yang; Yang, Fan

doi:10.1002/mgg3.1496

Cited by 14 publications

(29 citation statements)

References 25 publications

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“…Interestingly, Individuals 8 and 14 were clinically suspected to have a Rasopathy, one individual (Individual 3) suspected to have Tuberous Sclerosis, while two other individuals (Individuals 10 and 12) were highly suspected to have Coffin–Siris syndrome prior to identifying a pathogenic variant in SON . This highlights the phenotypic variability associated with ZTTK syndrome and further promotes the utility of genome wide testing (WES, WGS) for the diagnosis of rare disorders (Slezak et al, 2020; L. Yang & Yang, 2020).…”

Section: Discussionmentioning

confidence: 93%

“…ZTTK syndrome is a multisystemic condition that has been previously described in 45 individuals (Kim et al, 2019; Kim, Shinde, et al, 2016; Quintana Castanedo et al, 2020; Slezak et al, 2020; Takenouchi et al, 2016; Tan et al, 2020; Tokita et al, 2016; L. Yang & Yang, 2020; Y. Yang et al, 2019). In this study, we describe 15 previously unreported individuals with SON variants, and obtained additional clinical information on the individual recently described by Quintana Castanedo et al (2020).…”

Section: Discussionmentioning

confidence: 99%

“…Growth delay and short stature are present in about half (25 of 49, 51%) of all individuals. Yang et al (2019) reported a case of a 13‐year‐old female individual with ZTTK syndrome who had a growth hormone provocation test revealing a peak level of 7.37 ng/mL, while Yang and Yang (2020) reported an 11‐year‐old female individual who had a similar peak value of 8.1 ng/mL (reference value: >15 ng/mL). To our knowledge, only one individual (reported in Quintana Castanedo et al (2020)) received growth hormone treatment due to her short stature.…”

Section: Discussionmentioning

confidence: 99%

“…For the literature review, relevant articles describing individuals with SON variants were identified through PubMed (https://www.ncbi.nlm.nih.gov/pubmed), OMIM (Online Mendelian Inheritance of Man, http://www.omim.org/), HGMD (Human Gene Mutation Database, http://www.hgmd.cf.ac.uk/ac/index.php), and DECIPHER. A total of 45 cases were ascertained from the literature: 20 cases from Kim, Baddoo, et al (2016), seven from Tokita et al (2016), one from Takenouchi et al (2016), one from Y. Yang et al (2019), two from Kim et al (2019), two from Slezak et al (2020), one from Yang and Yang (2020), one from Tan et al (2020), one from Quintana Castanedo et al (2020), and nine individuals from DECIPHER. Of note, limited information was available for the nine individuals from DECIPHER.…”

Section: Methodsmentioning

confidence: 99%

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

Kushary

Revah‐Politi

Barua

et al. 2021

American J of Med Genetics Pt A

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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.

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Section: Discussionmentioning

confidence: 93%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

See 2 more Smart Citations

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

Kushary

Revah‐Politi

Barua

et al. 2021

American J of Med Genetics Pt A

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“…It is an autosomal dominant hereditary disorder, which affects manyorgan systems, caused by a heterozygous mutation in the SON gene (21q22.11). This mutation leads to abnormal RNA splicing [ 1 , 2 , 3 ]. The typical symptoms include intellectual development disorders, seizures, and brain malformation such ascortex malformation or corpus callosum abnormality.…”

Section: Introductionmentioning

confidence: 99%

Anesthesia of the Patient with Zhu-Tokita-Takenouchi-Kim (ZTTK) Syndrome: A Case Report

Hudec

Kosinová

2022

Children

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Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome is an extremely rare multiorgan disorder, first described in 2015. Nowadays, about 50 patients with ZTTK syndrome have been reported, but there are no data about management during anesthesia. ZTTK syndrome patients can be indicated for surgery of musculoskeletal deformations and corrections of cardiovascular or urogenital malformations. This syndrome can be challenging for the anesthetic team based on the clinical manifestation of the syndrome. Because there are no recommendations for the management of these patients, anesthesiologists have to study typical symptoms, anatomy and possible expected changes in pathophysiology in perioperative period. One of the most dreaded anesthetic complications, the scenario “can not intubate, can not ventilate” could occur in these patients. The goal of this publication is to show options for anesthetic and perioperative management of this new rare syndrome with no published studies about management and approach in the perioperative period. The anesthetic team should choose the safest available approach. We present the first case report of anesthesia of a patient with ZTTK syndrome, a 7-year-old boy indicated for posterior neuromuscular scoliosis correction and fusion. This case describes the author’s experiences with anesthetic management and mentions possible early postoperative complications. Adequate understanding of this syndrome can reduce perioperative complications and improve patient outcomes after surgery.

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Novel malformations: Chiari type 1 and hydrocephalus in Zhu‐Tokita‐Takenouchi‐Kim syndrome and novel SON variants

Pavone

Saia

Pappalardo

et al. 2022

Clinical Case Reports

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Zhu‐Tokita‐Tachenouchi‐Kim syndrome (ZTTK) is a recently recognized malformation syndrome presenting with craniofacial dysmorphism, developmental delay/intellectual disability, seizures, anomalies involving brain white matter, and other body‐organs. In humans, the disorder is linked to the loss‐of‐function variants in the SON gene (MIM# 617140). Herewith, a new case of this syndrome is reported in a 2‐year‐old Caucasian child who presented the classical clinical features of the ZTTK syndrome in association with hydrocephalus and Chiari malformations type 1 an anomaly previously unreported. Exome analysis showed a de novo heterozygous variant in SON gene. Literature review of similar cases is reported.

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A de novo heterozygous variant in the SON gene is associated with Zhu‐Tokita‐Takenouchi‐Kim syndrome

Abstract: This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

Cited by 14 publications

References 25 publications

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

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

Anesthesia of the Patient with Zhu-Tokita-Takenouchi-Kim (ZTTK) Syndrome: A Case Report

Novel malformations: Chiari type 1 and hydrocephalus in Zhu‐Tokita‐Takenouchi‐Kim syndrome and novel SON variants

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