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7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly.

Abstract：

:There are no published reports of patients harboring microdeletions involving the 7p22.1 region. Although 7p22.1 microdeletions are rare, some reports have shown microduplications encompassing this region. In this study, we report five patients with overlapping deletions of the 7p22.1 region. The patients exhibited clinical similarities including non-specific developmental delay, short stature, microcephaly, and other distinctive features. The shortest region of overlap within the 7p22.1 region includes five genes, FBXL18, ACTB, FSCN1, RNF216, and ZNF815P. Of these genes, only ACTB is known to be associated with an autosomal dominant trait. Dominant negative mutations in ACTB are responsible for Baraitser-Winter syndrome 1. We analyzed ACTB expression in immortalized lymphocytes derived from one of the patients and found that it was reduced to approximately half that observed in controls. This indicates that ACTB expression is linearly correlated with the gene copy number. We suggest that haploinsufficiency of ACTB may be responsible for the clinical features of patients with 7p22.1 microdeletions.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Shimojima K,Narai S,Togawa M,Doumoto T,Sangu N,Vanakker OM,de Paepe A,Edwards M,Whitehall J,Brescianini S,Petit F,Andrieux J,Yamamoto T

doi

10.1016/j.ejmg.2016.09.008

subject

Has Abstract

pub_date

2016-10-01 00:00:00

pages

502-6

issue

10

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(16)30314-7

journal_volume

59

pub_type

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