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Sci Rep. 2018 Jan 12;8(1):694. doi: 10.1038/s41598-017-19109-9.

A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome.

Author information

1
Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain. urreizti@ub.edu.
2
Geriatric Unit, Fondazione Ca'Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.
3
Nutritional Sciences, University of Milan, Milan, Italy.
4
Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain.
5
CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
6
Universitat Pompeu Fabra (UPF), Barcelona, Spain.
7
Pediatrics Medical Genetics, University of Utah School of Medicine, Salt Lake City, Utah, USA.
8
Istituto di Medicina Genomica, Università Cattolica Sacro Cuore, Policlinico A. Gemelli, Rome, Italy.

Abstract

De novo FOXP1 mutations have been associated with intellectual disability (ID), motor delay, autistic features and a wide spectrum of speech difficulties. C syndrome (Opitz C trigonocephaly syndrome) is a rare and genetically heterogeneous condition, characterized by trigonocephaly, craniofacial anomalies and ID. Several different chromosome deletions and and point mutations in distinct genes have been associated with the disease in patients originally diagnosed as Opitz C. By whole exome sequencing we identified a de novo splicing mutation in FOXP1 in a patient, initially diagnosed as C syndrome, who suffers from syndromic intellectual disability with trigonocephaly. The mutation (c.1428 + 1 G > A) promotes the skipping of exon 16, a frameshift and a premature STOP codon (p.Ala450GLyfs*13), as assessed by a minigene strategy. The patient reported here shares speech difficulties, intellectual disability and autistic features with other FOXP1 syndrome patients, and thus the diagnosis for this patient should be changed. Finally, since trigonocephaly has not been previously reported in FOXP1 syndrome, it remains to be proved whether it may be associated with the FOXP1 mutation.

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