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Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.
Hum Mutat. 2016 Apr; 37(4):359-63.HM

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.

Authors+Show Affiliations

Medical Genetics, University Hospital Basel, Basel, Switzerland.Pathology, University Hospital Basel, Basel, Switzerland.Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.Medical Genetics, University Hospital Basel, Basel, Switzerland.Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.Section of Paediatric Neurohabilitation, Department of Clinical Neurosciences for Children, Oslo University Hospital, Ullevål, Oslo, Norway.Obstetrics and Gynecology, University Hospital Basel, Basel, Switzerland.Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.Biozentrum and Swiss Institute of Bioinformatics, University of Basel, Basel, Switzerland.Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.Pathology, University Hospital Basel, Basel, Switzerland.Neonatology, University Children's Hospital Basel, Basel, Switzerland.Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.Medical Genetics, University Hospital Basel, Basel, Switzerland.Centre for Prenatal Ultrasound, Basel, Switzerland.Department of Ophthalmology, Section for Pediatric Ophthalmology, Oslo University Hospital, Ullevål, Oslo, Norway.Pathology, University Hospital Basel, Basel, Switzerland.Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.Section for Clinical Neurosciences, Department of Pediatrics, Oslo University Hospital and University of Oslo, Oslo, Norway.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

26820108

Citation

Filges, Isabel, et al. "Strømme Syndrome Is a Ciliary Disorder Caused By Mutations in CENPF." Human Mutation, vol. 37, no. 4, 2016, pp. 359-63.
Filges I, Bruder E, Brandal K, et al. Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF. Hum Mutat. 2016;37(4):359-63.
Filges, I., Bruder, E., Brandal, K., Meier, S., Undlien, D. E., Waage, T. R., Hoesli, I., Schubach, M., de Beer, T., Sheng, Y., Hoeller, S., Schulzke, S., Røsby, O., Miny, P., Tercanli, S., Oppedal, T., Meyer, P., Selmer, K. K., & Strømme, P. (2016). Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF. Human Mutation, 37(4), 359-63. https://doi.org/10.1002/humu.22960
Filges I, et al. Strømme Syndrome Is a Ciliary Disorder Caused By Mutations in CENPF. Hum Mutat. 2016;37(4):359-63. PubMed PMID: 26820108.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF. AU - Filges,Isabel, AU - Bruder,Elisabeth, AU - Brandal,Kristin, AU - Meier,Stephanie, AU - Undlien,Dag Erik, AU - Waage,Trine Rygvold, AU - Hoesli,Irene, AU - Schubach,Max, AU - de Beer,Tjaart, AU - Sheng,Ying, AU - Hoeller,Sylvia, AU - Schulzke,Sven, AU - Røsby,Oddveig, AU - Miny,Peter, AU - Tercanli,Sevgi, AU - Oppedal,Truls, AU - Meyer,Peter, AU - Selmer,Kaja Kristine, AU - Strømme,Petter, Y1 - 2016/02/09/ PY - 2015/09/21/received PY - 2016/01/08/accepted PY - 2016/1/29/entrez PY - 2016/1/29/pubmed PY - 2016/12/15/medline KW - CENPF KW - Strømme syndrome KW - ciliopathy KW - fetal autopsy KW - intestinal atresia SP - 359 EP - 63 JF - Human mutation JO - Hum Mutat VL - 37 IS - 4 N2 - 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. SN - 1098-1004 UR - https://www.unboundmedicine.com/medline/citation/26820108/Strømme_Syndrome_Is_a_Ciliary_Disorder_Caused_by_Mutations_in_CENPF_ L2 - https://doi.org/10.1002/humu.22960 DB - PRIME DP - Unbound Medicine ER -