Clark-Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12

Am J Med Genet A. 2020 Mar;182(3):595-596. doi: 10.1002/ajmg.a.61443. Epub 2019 Dec 8.

Authors

Raymond J Louie¹, Michael J Friez¹, Cindy Skinner¹, Michael Baraitser², Robin D Clark³, Charles E Schwartz¹, Roger E Stevenson¹

Affiliations

¹ J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina.
² Department of Clinical Genetics, Hospital for Sick Children, London, UK.
³ Division of Medical Genetics, Loma Linda University School of Medicine, Loma Linda, California.

PMID: 31814248
DOI: 10.1002/ajmg.a.61443

No abstract available

Publication types

Letter

MeSH terms

Adult
Carrier Proteins / genetics*
Child, Preschool
Codon, Nonsense / genetics
Facies
Female
Growth Disorders / diagnosis
Growth Disorders / genetics*
Growth Disorders / pathology
Humans
Hydrocephalus / diagnosis
Hydrocephalus / genetics*
Hydrocephalus / pathology
Infant
Male
Mental Retardation, X-Linked / diagnosis
Mental Retardation, X-Linked / genetics*
Mental Retardation, X-Linked / pathology
Obesity / diagnosis
Obesity / genetics*
Obesity / pathology
Ubiquitin-Protein Ligases / genetics*
Whole Genome Sequencing

Substances

Carrier Proteins
Codon, Nonsense
TRIP12 protein, human
Ubiquitin-Protein Ligases

Supplementary concepts

Clark-Baraitser syndrome