Details

Autor(en) / Beteiligte

• Tan, Queenie K-G
• McConkie-Rosell, Allyn
• Juusola, Jane
• Gustafson, Kathryn E
• Pizoli, Carolyn E
• Buckley, Anne F
• Jiang, Yong-Hui

Titel

The importance of managing the patient and not the gene: expanded phenotype of GLE1 -associated arthrogryposis

Ist Teil von

• Cold Spring Harbor molecular case studies, 2017-11, Vol.3 (6), p.a002063

Ort / Verlag

United States: Cold Spring Harbor Laboratory Press

Erscheinungsjahr

2017

Link zum Volltext

Quelle

Free E-Journal (出版社公開部分のみ）

Beschreibungen/Notizen

• encodes a protein important for mRNA export and appears to play roles in translation initiation and termination as well. Pathogenic variants in mutations have been associated with lethal contracture syndrome and lethal arthrogryposis with anterior horn cell disease; phenotypes reported in individuals include fetal akinesia and a severe form of motor neuron disease, typically presenting with prenatal symptoms and perinatal lethality. In this article, we identified biallelic missense mutations in by trio whole-exome sequencing in an individual affected with congenital motor weakness and contractures as well as feeding and respiratory difficulties. Muscle biopsy was consistent with anterior horn cell disease and supported the pathogenicity of the sequence variants. Importantly, this individual survived past the perinatal period with respiratory support and currently demonstrates age-appropriate cognition and slow but steady motor developmental progress. We propose that pathogenic variants in can be associated with a nonperinatal lethal motor phenotype, and affected individuals can demonstrate motor skill progression, unlike prototypical anterior horn cell diseases such as spinal muscular atrophy.