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- Title
<italic>EFNB2</italic> haploinsufficiency causes a syndromic neurodevelopmental disorder.
- Authors
Lévy, J.; Haye, D.; Marziliano, N.; Casu, G.; Guimiot, F.; Dupont, C.; Teissier, N.; Benzacken, B.; Gressens, P.; Pipiras, E.; Verloes, A.; Tabet, A.‐C.
- Abstract
Ephrin B2, one of the ligand of the EphB receptors, is involved in a complex signaling pathway regulating the development of the nervous system, neuronal migration, erythropoiesis and vasculogenesis. We report a patient with a de novo variant in <italic>EFNB2</italic> and a family in which segregates a 610‐kb deletion at chromosome 13q33 encompassing only <italic>ARGLU1</italic> and <italic>EFNB2</italic> genes. The de novo variant was observed in a patient with anal stenosis, hypoplastic left ventricle and mild developmental delay. The deletion was identified in 2 sibs with congenital heart defect and mild developmental delay. One of the affected sibs further had myoclonic epilepsy and bilateral sensorineural hearing loss. The carrier mother was apparently asymptomatic. Because <italic>EFNB2</italic> is located in the subtelomeric region of 13q chromosome, we reviewed the previous reports of terminal 13q deletion. We suggest that haploinsufficiency of the <italic>EFNB2</italic> could be at the origin of several clinical features reported in 13qter deletions, including intellectual disability, seizures, congenital heart defects, anorectal malformation and hearing loss.
- Subjects
EPHRINS; GENETIC mutation; MEMBRANE proteins; BRAIN imaging; NEURAL development
- Publication
Clinical Genetics, 2018, Vol 93, Issue 6, p1141
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/cge.13234