ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.
Brain
/ diagnostic imaging
Congenital Abnormalities
/ diagnosis
DNA-Binding Proteins
/ genetics
Female
Genetic Association Studies
Genetic Predisposition to Disease
Genotype
Humans
Intellectual Disability
/ diagnosis
Male
Minor Histocompatibility Antigens
/ genetics
Mutation, Missense
/ genetics
Phenotype
Seizures
/ diagnosis
Exome Sequencing
SON
genotype-phenotype correlation
multisystemic disorder
whole exome sequencing
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
12 2021
12 2021
Historique:
revised:
21
05
2021
received:
01
03
2021
accepted:
09
07
2021
pubmed:
1
8
2021
medline:
3
3
2022
entrez:
31
7
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 34331327
doi: 10.1002/ajmg.a.62445
pmc: PMC8595531
mid: NIHMS1727740
doi:
Substances chimiques
DNA-Binding Proteins
0
Minor Histocompatibility Antigens
0
SON protein, human
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
3740-3753Subventions
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : NCATS NIH HHS
ID : UL1 TR001873
Pays : United States
Organisme : Department of Health
Pays : United Kingdom
Organisme : Wellcome Trust
ID : WT098051
Pays : United Kingdom
Informations de copyright
© 2021 Wiley Periodicals LLC.
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