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4 results on '"Wherlock, Matt"'

1. Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype

Author

Bruel, Ange-Line, Bigoni, Stefania, Kennedy, Joanna, Whiteford, Margo, Buxton, Chris, Parmeggiani, Giulia, Wherlock, Matt, Woodward, Geoff, Greenslade, Mark, Williams, Maggie, St-Onge, Judith, Ferlini, Alessandra, Garani, Giampaolo, Ballardini, Elisa, van Bon, Bregje W, Acuna-Hidalgo, Rocio, Bohring, Axel, Deleuze, Jean-François, Boland, Anne, Meyer, Vincent, Olaso, Robert, Ginglinger, Emmanuelle, Study, DDD, Rivière, Jean-Baptiste, Brunner, Han G, Hoischen, Alexander, Newbury-Ecob, Ruth, Faivre, Laurence, Thauvin-Robinet, Christel, and Thevenon, Julien

Published
2017
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2. Expanding the clinical spectrum of recessive truncating mutations ofKLHL7to a Bohring-Opitz-like phenotype

Author

Bruel, Ange-Line, primary, Bigoni, Stefania, additional, Kennedy, Joanna, additional, Whiteford, Margo, additional, Buxton, Chris, additional, Parmeggiani, Giulia, additional, Wherlock, Matt, additional, Woodward, Geoff, additional, Greenslade, Mark, additional, Williams, Maggie, additional, St-Onge, Judith, additional, Ferlini, Alessandra, additional, Garani, Giampaolo, additional, Ballardini, Elisa, additional, van Bon, Bregje W, additional, Acuna-Hidalgo, Rocio, additional, Bohring, Axel, additional, Deleuze, Jean-François, additional, Boland, Anne, additional, Meyer, Vincent, additional, Olaso, Robert, additional, Ginglinger, Emmanuelle, additional, Study, DDD, additional, Rivière, Jean-Baptiste, additional, Brunner, Han G, additional, Hoischen, Alexander, additional, Newbury-Ecob, Ruth, additional, Faivre, Laurence, additional, Thauvin-Robinet, Christel, additional, and Thevenon, Julien, additional

Published
2017
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3. Simultaneous Sequencing of 24 Genes Associated with Steroid-Resistant Nephrotic Syndrome

Author

McCarthy, Hugh J., primary, Bierzynska, Agnieszka, additional, Wherlock, Matt, additional, Ognjanovic, Milos, additional, Kerecuk, Larissa, additional, Hegde, Shivaram, additional, Feather, Sally, additional, Gilbert, Rodney D., additional, Krischock, Leah, additional, Jones, Caroline, additional, Sinha, Manish D., additional, Webb, Nicholas J.A., additional, Christian, Martin, additional, Williams, Margaret M., additional, Marks, Stephen, additional, Koziell, Ania, additional, Welsh, Gavin I., additional, and Saleem, Moin A., additional

Published
2013
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4. Expanding the clinical spectrum of recessive truncating mutations of KLHL7to a Bohring-Opitz-like phenotype

Author

Bruel, Ange-Line, Bigoni, Stefania, Kennedy, Joanna, Whiteford, Margo, Buxton, Chris, Parmeggiani, Giulia, Wherlock, Matt, Woodward, Geoff, Greenslade, Mark, Williams, Maggie, St-Onge, Judith, Ferlini, Alessandra, Garani, Giampaolo, Ballardini, Elisa, van Bon, Bregje W, Acuna-Hidalgo, Rocio, Bohring, Axel, Deleuze, Jean-Francois, Boland, Anne, Meyer, Vincent, Olaso, Robert, Ginglinger, Emmanuelle, Study, DDD, Rivière, Jean-Baptiste, Brunner, Han G, Hoischen, Alexander, Newbury-Ecob, Ruth, Faivre, Laurence, Thauvin-Robinet, Christel, and Thevenon, Julien

Abstract

BackgroundBohring-Opitz syndrome (BOS) is a rare genetic disorder characterised by a recognisable craniofacial appearance and a typical ‘BOS’ posture. BOS is caused by sporadic mutations ofASXL1. However, several typical patients with BOS have no molecular diagnosis, suggesting clinical and genetic heterogeneity.ObjectivesTo expand the phenotypical spectrum of autosomal recessive variants of KLHL7, reported as causing Crisponi syndrome/cold-induced sweating syndrome type 1 (CS/CISS1)-like syndrome.MethodsWe performed whole-exome sequencing in two families with a suspected recessive mode of inheritance. We used the Matchmaker Exchange initiative to identify additional patients.ResultsHere, we report six patients with microcephaly, facial dysmorphism, including exophthalmos, nevus flammeus of the glabella and joint contractures with a suspected BOS posture in five out of six patients. We identified autosomal recessive truncating mutations in the KLHL7gene. KLHL7encodes a BTB–kelch protein implicated in the cell cycle and in protein degradation by the ubiquitin–proteasome pathway. Recently, biallelic mutations in the KLHL7gene were reported in four families and associated with CS/CISS1, characterised by clinical features overlapping with our patients.ConclusionWe have expanded the clinical spectrum of KLHL7autosomal recessive variants by describing a syndrome with features overlapping CS/CISS1 and BOS.

Published
2017
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