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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.

Abstract：

:Chromosome region 1q21.1 contains extensive and complex low-copy repeats, and copy number variants (CNVs) in this region have recently been reported in association with congenital heart defects, developmental delay, schizophrenia and related psychoses. We describe 21 probands with the 1q21.1 microdeletion and 15 probands with the 1q21.1 microduplication. These CNVs were inherited in most of the cases in which parental studies were available. Consistent and statistically significant features of microcephaly and macrocephaly were found in individuals with microdeletion and microduplication, respectively. Notably, a paralog of the HYDIN gene located on 16q22.2 and implicated in autosomal recessive hydrocephalus was inserted into the 1q21.1 region during the evolution of Homo sapiens; we found this locus to be deleted or duplicated in the individuals we studied, making it a probable candidate for the head size abnormalities observed. We propose that recurrent reciprocal microdeletions and microduplications within 1q21.1 represent previously unknown genomic disorders characterized by abnormal head size along with a spectrum of developmental delay, neuropsychiatric abnormalities, dysmorphic features and congenital anomalies. These phenotypes are subject to incomplete penetrance and variable expressivity.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Brunetti-Pierri N,Berg JS,Scaglia F,Belmont J,Bacino CA,Sahoo T,Lalani SR,Graham B,Lee B,Shinawi M,Shen J,Kang SH,Pursley A,Lotze T,Kennedy G,Lansky-Shafer S,Weaver C,Roeder ER,Grebe TA,Arnold GL,Hutchison T,Rei

doi

10.1038/ng.279

subject

Has Abstract

pub_date

2008-12-01 00:00:00

pages

1466-71

issue

12

eissn

1061-4036

issn

1546-1718

pii

ng.279

journal_volume

40

pub_type

杂志文章

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