Developmental disorder and spastic paraparesis in two sisters with a TCF7L2 truncating variant inherited from a mosaic mother

Am J Med Genet A. 2023 Jun;191(6):1658-1663. doi: 10.1002/ajmg.a.63173. Epub 2023 Mar 10.

Authors

Beryl Royer-Bertrand¹, Sébastien Lebon², Ailsa Craig¹, Johanna Maeder², Laureane Mittaz-Crettol¹, Heidi Fodstad¹, Andrea Superti-Furga¹, Jean-Marc Good¹

Affiliations

¹ Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland.
² Unit of Pediatric Neurology and Neurorehabilitation, Department of Pediatrics, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland.

PMID: 36905089
DOI: 10.1002/ajmg.a.63173

No abstract available

Publication types

Letter

MeSH terms

Child
Developmental Disabilities
Female
Humans
Mothers
Paraparesis, Spastic* / diagnosis
Paraparesis, Spastic* / genetics
Phenotype
Spastic Paraplegia, Hereditary*
Transcription Factor 7-Like 2 Protein

Substances

TCF7L2 protein, human
Transcription Factor 7-Like 2 Protein