A nonsense variant in the second exon of the canonical transcript of NSD1 does not cause Sotos syndrome

Am J Med Genet A. 2022 Jan;188(1):369-372. doi: 10.1002/ajmg.a.62519. Epub 2021 Sep 24.

Authors

Noa Ruhrman-Shahar¹, Nurit Assia Batzir², Gabriel Arie Lidzbarsky¹, Lily Bazak¹, Nurit Magal¹, Lina Basel-Salmon^{1

2

3

4}

Affiliations

¹ Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.
² Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
³ Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
⁴ Felsenstein Medical Research Center, Petach Tikva, Israel.

PMID: 34559457
DOI: 10.1002/ajmg.a.62519

No abstract available

MeSH terms

Codon, Nonsense / genetics
Exons / genetics
Histone-Lysine N-Methyltransferase / genetics
Humans
Sotos Syndrome* / diagnosis
Sotos Syndrome* / genetics

Substances

Codon, Nonsense
Histone-Lysine N-Methyltransferase
NSD1 protein, human