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Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.

ABSTRACT: The life-threatening Immunodeficiency, Centromeric Instability and Facial Anomalies (ICF) syndrome is a genetically heterogeneous autosomal recessive disorder. Twenty percent of patients cannot be explained by mutations in the known ICF genes DNA methyltransferase 3B or zinc-finger and BTB domain containing 24. Here we report mutations in the cell division cycle associated 7 and the helicase, lymphoid-specific genes in 10 unexplained ICF cases. Our data highlight the genetic heterogeneity of ICF syndrome; however, they provide evidence that all genes act in common or converging pathways leading to the ICF phenotype.

SUBMITTER: Thijssen PE

PROVIDER: S-EPMC4519989 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature

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Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.

Thijssen Peter E PE Ito Yuya Y Grillo Giacomo G Wang Jun J Velasco Guillaume G Nitta Hirohisa H Unoki Motoko M Yoshihara Minako M Suyama Mikita M Sun Yu Y Lemmers Richard J L F RJ de Greef Jessica C JC Gennery Andrew A Picco Paolo P Kloeckener-Gruissem Barbara B Güngör Tayfun T Reisli Ismail I Picard Capucine C Kebaili Kamila K Roquelaure Bertrand B Iwai Tsuyako T Kondo Ikuko I Kubota Takeo T van Ostaijen-Ten Dam Monique M MM van Tol Maarten J D MJ Weemaes Corry C Francastel Claire C van der Maarel Silvère M SM Sasaki Hiroyuki H

Nature communications 20150728

The life-threatening Immunodeficiency, Centromeric Instability and Facial Anomalies (ICF) syndrome is a genetically heterogeneous autosomal recessive disorder. Twenty percent of patients cannot be explained by mutations in the known ICF genes DNA methyltransferase 3B or zinc-finger and BTB domain containing 24. Here we report mutations in the cell division cycle associated 7 and the helicase, lymphoid-specific genes in 10 unexplained ICF cases. Our data highlight the genetic heterogeneity of ICF ...[more]

PMID: 26216346

Dataset Information

Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.

Publications

Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.

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