In:
Molecular Syndromology, S. Karger AG, Vol. 10, No. 4 ( 2019), p. 195-201
Abstract:
Intellectual disability (ID) occurs in approximately 1% of the population. Over the last years, broad sequencing approaches such as whole exome sequencing (WES) substantially contributed to the definition of the molecular defects underlying nonsyndromic ID. Pathogenic variants in 〈 i 〉 HIVEP2 〈 /i 〉 , which encodes the human immunodeficiency virus type I enhancer binding protein 2, have recently been reported as a cause of ID, developmental delay, behavioral disorders, and dysmorphic features. HIVEP2 serves as a transcriptional factor regulating NF- & #x0138;B and diverse genes that are essential in neural development. To date, only 8 patients with pathogenic de novo nonsense or frameshift variants and 1 patient with a pathogenic missense variant in 〈 i 〉 HIVEP2 〈 /i 〉 have been reported. By WES, we identified 2 novel truncating 〈 i 〉 HIVEP2 〈 /i 〉 variants, c.6609_6616delTGAGGGTC (p.Glu2204*) and c.6667C 〉 T (p.Arg2223*), in 2 young adults presenting with developmental delay and mild ID without any dysmorphic features, systemic malformations, or behavioral issues.
Type of Medium:
Online Resource
ISSN:
1661-8769
,
1661-8777
Language:
English
Publisher:
S. Karger AG
Publication Date:
2019
detail.hit.zdb_id:
2546218-0
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