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A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly.

Abstract：

:Holoprosencephaly is the incomplete separation of the forebrain during embryogenesis. Both genetic and environmental etiologies have been determined for holoprosencephaly; however, a genetic etiology is not found in most cases. In this report, we present two unrelated individuals with semilobar holoprosencephaly who have the identical de novo missense variant in the gene CCR4-NOT transcription complex, subunit 1 (CNOT1). The variant (c.1603C>T [p.Arg535Cys]) is predicted to be deleterious and is not present in public databases. CNOT1 has not been previously associated with holoprosencephaly or other brain malformations. In situ hybridization analyses of mouse embryos show that Cnot1 is expressed in the prosencephalic neural folds at gestational day 8.25 during the critical period for subsequent forebrain division. Combining human and mouse data, we show that CNOT1 is associated with incomplete forebrain division.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Kruszka P,Berger SI,Weiss K,Everson JL,Martinez AF,Hong S,Anyane-Yeboa K,Lipinski RJ,Muenke M

doi

10.1016/j.ajhg.2019.03.017

subject

Has Abstract

pub_date

2019-05-02 00:00:00

pages

990-993

issue

5

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(19)30113-2

journal_volume

104

pub_type

杂志文章

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