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

doi:10.1002/ajmg.a.62445

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Article

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

American journal of medical genetics. Part A - 1 Dec 2021

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

Abstract excerpt

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...

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Identifiers

PMID: 34331327
DOI: 10.1002/ajmg.a.62445
PMCID: PMC8595531

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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