A novel HECW2 variant in an infant with congenital long QT syndrome

Pathogenic variants of HECW2 have been reported in cases of neurodevelopmental disorder with hypotonia, seizures, and absent language (NDHSAL; OMIM #617268). A novel HECW2 variant (NM_001348768.2:c.4343 T > C,p.Leu1448Ser) was identified in an NDHSAL infant with severe cardiac comorbidities. The...

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Detalles Bibliográficos
Autores principales: Imanishi, Rina, Nakau, Kouichi, Shimada, Sorachi, Oka, Hideharu, Takeguchi, Ryo, Tanaka, Ryosuke, Sugiyama, Tatsutoshi, Nii, Mitsumaro, Okamoto, Toshio, Nagaya, Ken, Makita, Yoshio, Yanagi, Kumiko, Kaname, Tadashi, Takahashi, Satoru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10244414/
https://www.ncbi.nlm.nih.gov/pubmed/37280227
http://dx.doi.org/10.1038/s41439-023-00245-w
Descripción
Sumario:Pathogenic variants of HECW2 have been reported in cases of neurodevelopmental disorder with hypotonia, seizures, and absent language (NDHSAL; OMIM #617268). A novel HECW2 variant (NM_001348768.2:c.4343 T > C,p.Leu1448Ser) was identified in an NDHSAL infant with severe cardiac comorbidities. The patient presented with fetal tachyarrhythmia and hydrops and was postnatally diagnosed with long QT syndrome. This study provides evidence that HECW2 pathogenic variants can cause long QT syndrome along with neurodevelopmental disorders.

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