Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF

Hum Mutat. 2016 Apr;37(4):359-63. doi: 10.1002/humu.22960.

Isabel Filges ¹, Elisabeth Bruder ², Kristin Brandal ³, Stephanie Meier ¹, Dag Erik Undlien ³, Trine Rygvold Waage ⁴, Irene Hoesli ⁵, Max Schubach ⁶, Tjaart de Beer ⁷, Ying Sheng ³, Sylvia Hoeller ², Sven Schulzke ⁸, Oddveig Røsby ³, Peter Miny ¹, Sevgi Tercanli ⁹, Truls Oppedal ¹⁰, Peter Meyer ², Kaja Kristine Selmer ³, Petter Strømme ¹¹

Affiliations

1 Medical Genetics, University Hospital Basel, Basel, Switzerland.
2 Pathology, University Hospital Basel, Basel, Switzerland.
3 Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.
4 Section of Paediatric Neurohabilitation, Department of Clinical Neurosciences for Children, Oslo University Hospital, Ullevål, Oslo, Norway.
5 Obstetrics and Gynecology, University Hospital Basel, Basel, Switzerland.
6 Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.
7 Biozentrum and Swiss Institute of Bioinformatics, University of Basel, Basel, Switzerland.
8 Neonatology, University Children's Hospital Basel, Basel, Switzerland.
9 Centre for Prenatal Ultrasound, Basel, Switzerland.
10 Department of Ophthalmology, Section for Pediatric Ophthalmology, Oslo University Hospital, Ullevål, Oslo, Norway.
11 Section for Clinical Neurosciences, Department of Pediatrics, Oslo University Hospital and University of Oslo, Oslo, Norway.

PMID: 26820108 DOI: 10.1002/humu.22960

Abstract

Strømme syndrome was first described by Strømme et al. (1993) in siblings presenting with "apple peel" type intestinal atresia, ocular anomalies and microcephaly. The etiology remains unknown to date. We describe the long-term clinical follow-up data for the original pair of siblings as well as two previously unreported siblings with a severe phenotype overlapping that of the Strømme syndrome including fetal autopsy results. Using family-based whole-exome sequencing, we identified truncating mutations in the centrosome gene CENPF in the two nonconsanguineous Caucasian sibling pairs. Compound heterozygous inheritance was confirmed in both families. Recently, mutations in this gene were shown to cause a fetal lethal phenotype, the phenotype and functional data being compatible with a human ciliopathy [Waters et al., 2015]. We show for the first time that Strømme syndrome is an autosomal-recessive disease caused by mutations in CENPF that can result in a wide phenotypic spectrum.

Keywords

CENPF; Strømme syndrome; ciliopathy; fetal autopsy; intestinal atresia.

Name
Email *

	Sorry, but the email address you supplied was invalid.