Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2008 - Serie V Nº 7

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Boletín del ECEMC: Revista de Dismorfología y Epidemiología 2008; Serie V Nº 7
(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2008-10) Instituto de Salud Carlos III. Instituto de Investigación de Enfermedades Raras (IIER)
Sumario de Boletín del ECEMC: Revista de Dismorfología y Epidemiología 2008; Serie V Nº 7
Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2008 - Serie V Nº 7
(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2008-10) Instituto de Salud Carlos III. Instituto de Investigación de Enfermedades Raras (IIER)
Número completo de: Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2008 - Serie V Nº 7
Los genes del desarrollo embrionario en distintas patologías: la necesidad de un abordaje pluridisciplinar.
(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2008-10) de Frutos, Cristina A; Nieto, M Angela
Uso de mapas de expresión génica para identificar genes candidatos de patrones clínicos morfogenéticos: Análisis de la Unidad de Desarrollo Acro-renal
(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2008-10) Martínez-Frías, María Luisa
Congenital anomalies of human morphology have been classified under two criteria: 1) according to a catalogue of affected organs and systems or, 2) the pathogenic relationship explaining the detected malformations. This second approach seems to be the adequate way to look for the causal mechanisms involved in the clinical manifestations of multiorganic congenital alterations: malformations, deformations and disruptions when organs are affected and dysplasia when tissues are affected (or combination of them). Sometimes a group of organs and tissues appear frequently affected in congenital anomalies suggesting that they could share regulatory processes and molecular mechanisms during embryonic development. Therefore, these organs are part of a morphogenetic field (developmental field). The way to discover molecular candidates to development field alteration is to explore correlations between anatomic alterations and gene expression patterns. To test the efficiency of this approach methodology we have analyzed gene expressions in an extensive expression data webpage: EUREXPress, where the expression of 14,000 mouse genes has been mapped at 14th days of embryonic development, genes showing multiorganic expression patterns coincident with the organic anomalies described in our data base for acro-renal syndrome. From 704 genes expressed in the footplate or kidney, 6 genes have a complex expression pattern covering most of the organs affected in acro-renal developmental field defect. Then, this approach identifies easily possible candidate genes for the acro-renal syndrome. Further basic and clinical analysis will be necessary to demonstrate the possible pathogenic relationship.
Síndrome de Múltiples pliegues benignos de la piel de los miembros (síndrome de bebé Michelín)
(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2008-10) Pronzato Cuello, Flavia; Lázaro Carreño, María Isabel
Michelin baby is a rare syndrome characterized by generalized folds of redundant skin. These features can be present alone or be associated with noncutaneous anomalies. The diagnosis is mainly clinical and it probable reflects multiple underlying disorders. Since the first description by Ross in 1969, approximately 20 patients have been reported. This paper describes a case of an 18-month-old girl with increased skin folds associated to facial dysmorphism and development delay, including a small review of the literature to contribute to a better understanding of this syndrome.
Anomalía de Duane: Descripción y Guía Anticipatoria
(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2008-10) Mendioroz, J; Bermejo-Sanchez, Eva
Duane anomaly is a congenital form of strabismus clinically characterized by a non-progressive ophthalmoplegia that hinds the ability to move the affected eyes horizontally outward and/or inward. Furthermore, the ocular globe retracts into the orbit, and the palpebral fissure narrows when adduction is attemped. This anomaly is caused by a primary disturbance in the developement of the III, IV and VI cranial nerves that leads to an aberrant inervation of the extraocular muscles. The frequence of this anomaly in the general population accounts for 0.1%, and represents around 1-5% of the cases with congenital strabismus. Duane anomaly can be isolated or associated with other congenital anomalies as a part of several syndromes. Most cases are sporadic but some patterns with dominant autosomal inheritance have been reported. The diagnosis of Duane anomaly is not easy in newborns, and patients with congenital strabismus must be followed up to make the diagnosis. In this article we describe the clinical characteristics of the Duane anomaly and we provide an anticipatory guidance that may be useful in clinical practice.
Síndrome de Prader-Willi por disomía uniparentalmaterna y cariotipomos 47,XX,+mar/46,XX.
(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2008-10) Martinez-Fernandez, Maria Luisa; Rodriguez, Laura; López Mendoza, Santiago; Aceña, Mª Isabel; Lapunzina, Pablo; Martínez-Frías, María Luisa
Prader-Willi syndrome (PWS) is a neurogenetic disorder that results from different abnormalities involving chromosome 15, which could have either a (q11-q13) paternal microdeletion, maternal uniparental disomy (UPD) or a defect of the imprinting centre. Recently, it has been observed that the risk of UPD for any chromosome is increased when a supernumerary marker chromosome (SMC) is present. In fact, four mechanisms have been proposed to explain UPD in individuals carrying a SMC: 1) Functional trisomy rescue: In a trisomic zygote one of the three chromosomes undergoes a rearrangement to form a SMC, thereby reducing the chromosome complement to two. 2) Postzygotic reduplication: In a zygote which has inherited a SMC in place of the normal corresponding chromosome, a duplication of the normal chromosome homologue occurs to “rescue” the cell from aneuploidy. 3) Postfertilisation error: a postzygotic formation by either nondisjunction in early mitosis and subsequent reduction of the monosomic chromosome homologue or vice versa. 4) Complementation: fertilisation of a disomic gamete by a gamete having a SMC formed before, or during meiosis. Here we present a malformed newborn girl who presented with arched palate, amimic facies, congenital hips laxity, right talus valgus, marked hypotonia, breathing difficulties and hyaline membrane requiring antibiotics treatment. Cytogenetic analysis on blood culture showed two cellular lines, one normal (93.2% of the cells) and the other with a SMC present in 6.8% of the cells (47, XX, +mar/46,XX). As the clinical features of the patient suggested the PWS, Fluorescence In Situ Hybridization (FISH) analysis with the specific 15(q11-q13) region probe was performed, which gave normal results. However, the FISH and microsatellites analyses demonstrated that the SMC was derived from a chromosome 15, and the presence of maternal UPD for chromosome 15. As far as we know, this is the seventh reported patient with PWS, generated by maternal UPD of the chromosomes 15 due to the presence of a SMC (15). Therefore, we believe that is important to consider the increase risk of UPD in patients with a SMC, which is independent of the SMC origin and size, and the high implication for prenatal diagnosis.
Análisis clínico de los recién nacidos con defectos congénitos registrados en el ECEMC: Distribución por etiología y por grupos étnicos
(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2008-10) Martínez-Frías, María Luisa; Bermejo-Sanchez, Eva; Mendioroz, J; Cuevas Catalina, María Lourdes
The clinical analysis of the main clinical aspects of the infants with congenital defects registered by the ECEMC (Spanish Collaborative Study of Congenital Malformations) between 1980 and 2007, has been performed. Among a total of 2,254,439 newborns surveyed, 35,246 (1.56%), had congenital defects detected during the first 3 days of life. This group of malformed infants was distributed according to their clinical presentation as isolated (74.01%), multiply malformed (13.43%), and syndromes (12.56%). The etiologic distribution of infants with congenital anomalies in the ECEMC showed a 20.42% of genetic cause, 21.03% multifactorial, 1.22% produced by environmental causes, and in the remaining 57.33% the etiology of the defects was unknown. The secular distribution of the 3 main groups of clinical presentation (isolated, multiply malformed and syndromes) was studied and all of them showed a decreasing trend along the years, probably as a consequence of the impact of the interruption of pregnancy of some affected fetuses. The different types of syndromes and their minimal frequency values, were also presented separated by type of cause.
Tratamiento farmacológico de la Toxoplasmosis durante la gestación
(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2008-10) Fernández-Martín, P; Rodríguez-Pinilla, Elvira; Mejías-Pavón, C; García-Benítez, MR; Real, MM; Martínez-Frías, María Luisa
Toxoplasmosis is caused by the protozoan parasite Toxoplasma gondii infection. Acute infections in pregnant women can be transmitted to the fetus and cause severe illness (mental retardation, blindness, epilepsy…). We present a review of the effectiveness of the treatment of toxoplasmosis during pregnancy and we propose some guidelines for the prevention of congenital toxoplasmosis in pregnant women and for those who are planning to become pregnant
Frecuencia de anomalías congénitas en España: Vigilancia epidemiológica en el ECEMC en el período 1980-2007
(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2008-10) Bermejo-Sanchez, Eva; Cuevas Catalina, María Lourdes; Mendioroz, J; Grupo Periférico del ECEMC; Martínez-Frías, María Luisa
The ECEMC (Spanish Collaborative Study of Congenital Malformations) is a research programme, based on a hospital-based, case-control registry of newborn infants in Spain. It was created in 1976 by María Luisa Martínez-Frías and since then it has surveyed a total population of more than 2.5 million births, and studied more than 38,000 infants with congenital anomalies. The coverage of the registry is 21.18% of total births in Spain. The global frequency of infants with congenital defects in Spain has significantly decreased along the time since the passing of the law (year 1985) permitting termination of pregnancy (ToP) after the diagnosis of fetal defects. Thus, the birth frequency has dropped off from 2.22% in the basal period, to 1.43% in 1986-2006, and 1.17% in 2007. This decrease has also been statistically significant in most of the Spanish Autonomic Regions (see Fig. 1), and in many participating hospitals, and affects most of the defects that are routinely under surveillance. These decreases are considered mainly attributable to the impact of ToP. The only Autonomic Region in which an increase of the frequency was observed, was Extremadura, in which the health care has improved considerably in obstetrics and neonatology, allowing the attention of more complicated pregnancies and infants with serious congenital defects, which in the past were transferred to other regions. With respect to the study of a group of 33 defects, which were selected due to their relatively high base frequency or to the morbidity/mortality that they bear, only the heart/vessels defects and unilateral renal agenesis have increased with time. This must be the result of enhancing possibilities for their diagnosis. From the temporal-spatial analyses, there have been increases in the frequency of anophthalmia/microphthalmia in Baleares, diaphragmatic hernia in Tenerife (Islas Canarias), and omphalocele also in Tenerife. The first one was caused by the birth of just one case in 2007, and no causal agent could be specifically linked to the Balearic Islands. Regarding diaphragmatic hernia in Tenerife, after excluding one case with Brachmann-de Lange syndrome, the increase lost its statistical significance, and apparently there was not any common denominator among the other cases registered. With respect to the increase of omphalocele in Tenerife, this was due to the birth of 2 cases in 2007, without any known common characteristic from which a causal relationship could be inferred. Given that there were 2 defects the frequency of which has increased in Tenerife, it could be thought that they could be somehow related. However, omphalocele and diagphragmatic hernia are etiologically and pathogenetically different, so these findings must rather be independent. As in previous years, the ECEMC system of epidemiological surveillance has demonstrated being the only system in Spain to determine the birth frequency of congenital defects in this country, its evolution along the time, and their comparative geographical as well as temporal-spatial distribution. This is the base for causal studies, for planning of healthcare and social resources, and for designing preventive campaigns.
La Farmacogenética y la Medicina individualizada
(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2008-10) Baiget, M; Gallano, P; Lasa, A; Tizzano, E
The last decade has seen rapid progress and development in the understanding of genetic influences that underlie inter-individual differences in drug action and drug response. Differences in DNA sequences that alter the expression or function of proteins that are targeted by drugs can contribute significantly to variation in the responses of individuals. Many of the genes examined so far are linked to highly penetrant, single-gene traits, but future advances are focused on the more difficult challenge of elucidating multigene determinants of drug response. The interaction of genomics and medicine has the potential to yield a new set of molecular diagnostic tools that can be used to individualize and optimize drug therapy
Genética de las enfermedades del ADN mitocondrial
(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2008-10) Montoya, Julio; López-Gallardo, Ester; Herrero-Martín, María Dolores; Carreras, Magdalena; Martínez-Romero, Iñigo; Gómez-Durán, Aurora; Pacheu, David; Rhouda, Taha; López-Pérez, Manuel J; Ruiz-Pesini, Eduardo
The mitochondrial diseases or diseases of the oxidative phosphorylation system (OXPHOS) consist of a group of disorders originated by a deficient synthesis of ATP. OXPHOS is composed of proteins codified in the two genetic systems of the cell, the nuclear and the mitochondria genomes and, therefore, the mode of inheritance could be either mendelian or maternal. Due to the central role that mitochondria plays in the cellular physiology, these diseases are, nowadays a social and health problem of great importance, and, although individually they are clasified among the rare diseases, all together constitute a large variety of genetic disorders. Beside this, it is considered that the mitochondria are involved, directly or indirectly, in a large percentage of the human diseases. In this review we will be mainly focussed to describe, from a genetic point of view, the diseases caused by mitochondrial DNA damage, to show the special characteristics of the mitochondrial genetic system, the different methods that are necessary to utilize for their correct diagnoses, remarking the difficulties to study these pathologies, and the possible implication of the genetic variability of the genome in the development of these diseases. At the end, a brief mention to the diseases caused by nuclear defects will also be made.
Actividad de los Servicios de Información sobre Teratógenos (SITTE y SITE) durante el año 2007 y análisis de los datos sobre técnicas de reproducción asistida
(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2008-10) Rodríguez-Pinilla, Elvira; Mejías-Pavón, C; Fernández-Martín, P; García Benítez, MR; Real Ferrero, MM; Martínez-Frías, María Luisa
We present a summary of the activity of the two Teratology Information Services: SITTE (for health professionals) and SITE (for the general population) during 2007. The total number of calls received in both services was 4,665 (834 from SITTE and 3,831 from SITE). We also analyze some aspects of assisted reproductive techniques (ART) in the data of pregnant women who contacted the service (SITE) from April 2006 until December 2007. The result showed that 6% of the pregnant women who called conceive by any type of ART.
Posters presentados en la XXXI Reunión del ECEMC
(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2008-10) Instituto de Salud Carlos III

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