BACKGROUND: Cantu syndrome is a rare condition which is characterized clinically by hypertrichosis, cardiomegaly and bone abnormalities. Inherited hypertrichoses are very rare human disorders whose incidence has been estimated as low as 1 in 1 billion. The genetic basis of hypertrichosis is largely unknown, and currently no single gene has been directly implicated in its pathogenesis, although position effects have been reported. METHODS: We analyzed the DNA of a patient with Cantu syndrome on the Affymetrix Cytogenetics Whole-Genome 2.7M array for copy number variations (CNVs). We then performed genomic copy number quantification using qPCR, and finally we performed gene expression analysis in the hair follicle for the genes lying within and around the region of the duplication. RESULTS: We identified a 375 kb duplication on chromosome 4q26-27. The duplication region encompassed three genes, which included MYOZ2, USP53 and FABP2. MYOZ2 and USP53 are known to be highly expressed in the cardiac muscle, and we found that USP53 is expressed in the hair follicle. CONCLUSION: We propose that CNVs involving chromosome 4q26-27 may be associated with Cantu syndrome. CNVs spanning several genes may help define the molecular basis of syndromes which have unrelated clinical features.
BACKGROUND:Cantu syndrome is a rare condition which is characterized clinically by hypertrichosis, cardiomegaly and bone abnormalities. Inherited hypertrichoses are very rare human disorders whose incidence has been estimated as low as 1 in 1 billion. The genetic basis of hypertrichosis is largely unknown, and currently no single gene has been directly implicated in its pathogenesis, although position effects have been reported. METHODS: We analyzed the DNA of a patient with Cantu syndrome on the Affymetrix Cytogenetics Whole-Genome 2.7M array for copy number variations (CNVs). We then performed genomic copy number quantification using qPCR, and finally we performed gene expression analysis in the hair follicle for the genes lying within and around the region of the duplication. RESULTS: We identified a 375 kb duplication on chromosome 4q26-27. The duplication region encompassed three genes, which included MYOZ2, USP53 and FABP2. MYOZ2 and USP53 are known to be highly expressed in the cardiac muscle, and we found that USP53 is expressed in the hair follicle. CONCLUSION: We propose that CNVs involving chromosome 4q26-27 may be associated with Cantu syndrome. CNVs spanning several genes may help define the molecular basis of syndromes which have unrelated clinical features.
Authors: M A Macías-Flores; D García-Cruz; H Rivera; M Escobar-Luján; A Melendrez-Vega; D Rivas-Campos; F Rodríguez-Collazo; I Moreno-Arellano; J M Cantú Journal: Hum Genet Date: 1984 Impact factor: 4.132
Authors: R Balducci; V Toscano; B Tedeschi; A Mangiantini; R Toscano; C Galasso; S Cianfarani; B Boscherini Journal: Clin Genet Date: 1998-06 Impact factor: 4.438
Authors: M Tadin-Strapps; D Warburton; F A M Baumeister; S G Fischer; J Yonan; T C Gilliam; A M Christiano Journal: Cytogenet Genome Res Date: 2004 Impact factor: 1.636
Authors: Bregje W M van Bon; Christian Gilissen; Dorothy K Grange; Raoul C M Hennekam; Hülya Kayserili; Hartmut Engels; Heiko Reutter; John R Ostergaard; Eva Morava; Konstantinos Tsiakas; Bertrand Isidor; Martine Le Merrer; Metin Eser; Nienke Wieskamp; Petra de Vries; Marloes Steehouwer; Joris A Veltman; Stephen P Robertson; Han G Brunner; Bert B A de Vries; Alexander Hoischen Journal: Am J Hum Genet Date: 2012-05-17 Impact factor: 11.025
Authors: Ljubica Perisic Matic; Urszula Rykaczewska; Anton Razuvaev; Maria Sabater-Lleal; Mariette Lengquist; Clint L Miller; Ida Ericsson; Samuel Röhl; Malin Kronqvist; Silvia Aldi; Joelle Magné; Valentina Paloschi; Mattias Vesterlund; Yuhuang Li; Hong Jin; Maria Gonzalez Diez; Joy Roy; Damiano Baldassarre; Fabrizio Veglia; Steve E Humphries; Ulf de Faire; Elena Tremoli; Jacob Odeberg; Vladana Vukojević; Janne Lehtiö; Lars Maegdefessel; Ewa Ehrenborg; Gabrielle Paulsson-Berne; Göran K Hansson; Jan H N Lindeman; Per Eriksson; Thomas Quertermous; Anders Hamsten; Ulf Hedin Journal: Arterioscler Thromb Vasc Biol Date: 2016-07-28 Impact factor: 8.311