Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb‐girdle muscular dystrophy‐18.
- Resource Type
- Article
- Authors
- Hadouiri, Nawale; Thomas, Quentin; Darmency, Véronique; Dulieu, Véronique; De Rougemont, Marie‐Gabrielle Mourot; Bruel, Ange‐Line; Duffourd, Yannis; Lecoquierre, François; Colomb, Benoit; Perez‐Martin, Stéphanie; Ornetti, Paul; Blanchard, Olivier; Sorlin, Arthur; Philippe, Christophe; Faivre, Laurence; Vitobello, Antonio; Thauvin‐Robinet, Christel
- Source
- Clinical Genetics. Nov2021, Vol. 100 Issue 5, p643-644. 2p.
- Subject
- *CHROMOSOMES
*GENETIC variation
*MAGNETIC resonance imaging
*FACIOSCAPULOHUMERAL muscular dystrophy
*PHENOTYPES
*MUSCULAR dystrophy
- Language
- ISSN
- 0009-9163
The I TRAPPC11 i gene encodes a large TRAPPC11 protein containing the foie gras and gryzun domain. Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb-girdle muscular dystrophy-18 Only 13 I TRAPPC11 i pathogenic variants have been identified.1 We report the clinical phenotype and molecular features of a child (with informed consent of the parents) with a homozygous I TRAPPC11 i pathogenic variant secondary to postzygotic segmental uniparental disomy (UPD). [Extracted from the article]