A novel mutation in CDMP1 causes brachydactyly type C with "angel-shaped phalanx". A genotype-phenotype correlation in the mutational spectrum

Abstract

Threshold selection is a critical preprocessing step for image analysis, pattern recognition and computer vision. On the other hand differential evolution (DE) is a heuristic method for solving complex optimization problems, yielding promising results. DE is easy to use, keeps a simple structure and holds acceptable convergence properties and robustness. In this work, a novel automatic image multi-threshold approach based on differential evolution optimization is proposed. Hereby the segmentation process is considered to be similar to an optimization problem. First, the algorithm fills the 1-D histogram of the image using a mix of Gaussian functions whose parameters are calculated using the differential evolution method. Each Gaussian function approximating the histogram represents a pixel class and therefore a threshold point. The proposed approach is not only computationally efficient but also does not require prior assumptions whatsoever about the image. The method is likely to be most useful for applications considering different and perhaps initially unknown image classes. Experimental results demonstrate the algorithm's ability to perform automatic threshold selection while preserving main features from the original image. " 2010 Elsevier Ltd. All rights reserved.",,,,,,"10.1016/j.eswa.2010.01.013",,,"http://hdl.handle.net/20.500.12104/39075","http://www.scopus.com/inward/record.url?eid=2-s2.0-77950187403&partnerID=40&md5=f529bd961192c84f6fe6543f36620536",,,,,,"7",,"Expert Systems with Applications",,"5265

5271",,"37",,"Scopus

WOS",,,,,,"Automatic thresholding; Differential evolution; Image segmentation; Intelligent image processing",,,,,,"A novel multi-threshold segmentation approach based on differential evolution optimization",,"Article" "40855","123456789/35008",,"Gutiérrez-Amavizca, B.E., División de Genética, CIBO, Instituto Mexicano del Seguro Social, Guadalajara, Mexico, Doctorado en Genética Humana, Universidad de Guadalajara, Guadalajara, Mexico; Brambila-Tapia, A.J.L., División de Genética, CIBO, Instituto Mexicano del Seguro Social, Guadalajara, Mexico, Doctorado en Genética Humana, Universidad de Guadalajara, Guadalajara, Mexico; Juárez-Vázquez, C.I., Doctorado en Genética Humana, Universidad de Guadalajara, Guadalajara, Mexico, División de Medicina Molecular, CIBO, Instituto Mexicano del Seguro Social, Guadalajara, Mexico; Holder-Espinasse, M., Service de Genetique Clinique, Hopital Jeanne de Flandre, CHRU de Lille, France; Manouvrier-Hanu, S., Service de Genetique Clinique, Hopital Jeanne de Flandre, CHRU de Lille, France; Escande, F., Laboratoire de Biochimie et Biologie Moléculaire CHRU de Lille, Centre de Biologie et Pathologie, France; Barros-Núñez, P., División de Genética, CIBO, Instituto Mexicano del Seguro Social, Guadalajara, Mexico",,"Gutierrez-Amavizca, B.E.

Brambila-Tapia, A.J.L.

Juarez-Vazquez, C.I.

Holder-Espinasse, M.

Manouvrier-Hanu, S.

Escande, F.

Barros-Nunez, P.",,"2012",,"Brachydactyly type C (BDC), a well-recognized autosomal dominant hand malformation, displays brachymesophalangy of the second, third, and fifth fingers, a short first metacarpal, hyperphalangy, and ulnar deviation of the index finger. An "angel-shaped phalanx" is a distinctive radiological sign that can be found in BDC and other skeletal dysplasias, such as angel-shaped phalango-epiphyseal dysplasia (ASPED), an autosomal dominant skeletal abnormality characterized by a typical angel-shaped phalanx, brachydactyly, specific radiological findings, abnormal dentition, hip dysplasia, and delayed bone age. BDC and ASPED result from mutations in the CDMP1 gene. We report here a Mexican patient with BDC and clinical features of ASPED who carries a novel mutation in CDMP1, confirming that BDC and ASPED are part of the CDMP1 mutational spectrum. Based on the large number of clinical features in common, we suggest that both anomalies are part of the same clinical spectrum. Supported by an extensive review of the literature, a possible genotype-phenotype correlation in the mutational spectrum of this gene is proposed. " 2012 Elsevier Masson SAS.