Publications by authors named "Wilmer Delgado Luengo"

10 Publications

  • Page 1 of 1

PAGOD syndrome and vascular anomalies: is a defect embryonic angiogenesis? A case report and review.

Invest Clin 2016 Dec;57(4):388-401

PAGOD Syndrome is an acronym for lung and pulmonary arteries hypoplasia, agonadism, omphalocele / diaphragmatic defect and dextrocardia. A series of 21 patients is described, where 90.5% had a 46,XY karyotype and only two cases 46,XX; 66.6% exhibited a female phenotype and 28.6% ambiguous genitalia. The occurrence of two patients 46,XX excludes the Y chromosome as a carrier of the genetic defect and raises the possibility of a recessive X-linked inheritance, without ruling out that the observed cases in siblings may be due to mutations in other genes as Stra6, VEGFA, VEGFB, VEGFC, and alternative splicing of transcripts VEGFA, HIF1, HIF2, among others. Congenital malformations were observed in patients’ genitals and gonads 85.7%, 66.6% in diaphragm and abdominal wall , heart 80.9%, 71.4% lungs, blood vessels 80.9% and 42.8% in abdomen. The review of patients has demonstrated a high degree of variability in the expression of malformations of organs and organ systems. Vascular malformations represent an important and characteristic component of PAGOD syndrome and whose base morphogenetic syndrome may be due to a defect in early embryonic angiogenesis with impact on organogenesis and system development. Among genes related to vascular remodeling during embryogenesis, tissue regeneration and carcinogenesis, the Endothelial Growth Factor D Vascular (VEGFD), located in the Xp22.31 region, with expression in lung, heart, small intestine, uterus, breast, neuroblastoma and neural tissue, represents a strong candidate for molecular analysis as a cause of the syndrome.
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December 2016

[Double mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostoses].

Arch Argent Pediatr 2015 Apr;113(2):e109-12

Instituto de Investigaciones Genéticas, Facultad de Medicina, Universidad del Zulia, Maracaibo, Venezuela.

Hereditary forms of multiple exostoses, now called EXT1/EXT2-CDG within Congenital Disorders of Glycosylation, are the most common benign bone tumors in humans and clinical description consists of the formation of several cartilage-capped bone tumors, usually benign and localized in the juxta-epiphyseal region of long bones, although wide body dissemination in severe cases is not uncommon. Onset of the disease is variable ranging from 2-3 years up to 13-15 years with an estimated incidence ranging from 1/18,000 to 1/50,000 cases in European countries. We present a double mutant alleles in the EXT1 gene not previously reported in a teenager and her family with hereditary multiple exostoses.
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http://dx.doi.org/10.5546/aap.2015.e109DOI Listing
April 2015

Mutation c.1190-1delG/N in intron 8 and c.1708G>C/N in exon 12 not reported in the IDUA gene developed a clinical phenotype of Scheie syndrome.

Invest Clin 2014 Dec;55(4):365-70

University of Zulia, Maracaibo, Venezuela.

Mucopolysaccharidoses are a group of lysosomal storage disorders caused by deficiency of enzymes catalyzing the degradation of glycosaminoglycans. Mucopoly-saccharidosis I can present a wide range of phenotypic characteristics with three major recognized clinical entities: Hurler and Scheie syndromes represent phenotypes at the severe and mild ends of the clinical spectrum, respectively, and the Hurler-Scheie syndrome is intermediate in phenotypic expression. These are caused by the deficiency or absence of alpha-L-iduronidase, essential to the metabolism of both dermatan and heparan sulfate, and it is encoded by the lDUA gene. We report the case of a 34-year-old male patient with enzymatic deficiency of alpha-L-iduronidase, accumulation of its substrate and a previously unreported mutation in the IDUA gene that developed a phenotype of Scheie syndrome.
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December 2014

Petty-Laxova-Wiedemann progeroid syndrome: further phenotypical delineation and confirmation of a rare syndrome of premature aging.

Am J Med Genet A 2009 Oct;149A(10):2200-5

Medical Genetics Unit, Faculty of Medicine, University of Zulia, Zulia, Bolivarian Republic of Venezuela.

A 10-year-old boy with manifestations of Petty-Laxova-Wiedemann progeroid syndrome (PLWPS), a rare neonatal progeroid condition, is described and compared with those previously reported. Clinical manifestation include: severe pre- and postnatal growth retardation, "progeroid" face, large open fontanelle in infancy, umbilical hernia at birth, pseudomacrocephaly, wide calvaria, sparse scalp hair, markedly diminished subcutaneous fat, scoliosis, partial cutaneous syndactyly, aplastic and hypoplastic distal phalanges with aplasia and hypoplasia of nails, undescended testes, and normal cognitive and motor development. This appears to be one of only a handful of cases of PLWPS reported in an older child or adult.
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http://dx.doi.org/10.1002/ajmg.a.32884DOI Listing
October 2009

[Autism, chromosome 15 and the GAbaergic dysfunction hypothesis].

Invest Clin 2007 Dec;48(4):529-41

Unidad de Genética Médica, Facultad de Medicina, Universidad del Zulia, Maracaibo, Venezuela.

Autism is a complex neurodevelopmental disorder characterized by impairment of social interaction, language, communication, and stereotyped, repetitive behavior. Genetic predisposition to autism has been demonstrated from families and twin studies. Despite recent advances in identifying some susceptibility candidate genes, its underlying neurological mechanism is uncertain. There are genetic, biochemical and neuropathological findings that support the hypothesis that autism could be caused by GABAergic dysfunction and it is partially responsible for the etiology of this disorder. One of the most studied genome regions is the 15q11-q13, where the genes that encode for beta3, alpha5 and gamma3 subunits of the GABAA receptor are located. This review demonstrates evidence that involves this region in autism susceptibility and its likely relation with the hypothesis of GABAergic dysfunction.
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December 2007

[Molecular analysis of the GABRB3 gene in autistic patients: an exploratory study].

Invest Clin 2007 Jun;48(2):225-42

Unidad de Genética Médica, Facultad de Medicina, Universidad del Zulia, Maracaibo, Venezuela.

Autism is a complex neurodevelopmental disorder characterized by impairment of social interaction, language, communication, and stereotyped, repetitive behavior. Genetic predisposition to Autism has been demonstrated in families and twin studies. There is evidence (linkage and genetic association, biochemical, neuropathological, functional and cytogenetic) that the gamma-amino-butyric acid receptor beta 3 subunit gene (GABRB3) at 15q11-q13 is a susceptibility candidate gene for Autism. The aim of this exploratory study was to identify new variants of this gene. We performed the molecular analysis (SSCP/Sequencing) of 10 exons and its intronic flanking regions of GABRB3, using a candidate gene screening approach in 18 idiopathic autistic patients. We did not find non-synonymous mutations at the encoding regions, but we identified four SNP (Single Nucleotide Polymorphism). The first one, represented a silent mutation p.P25P in exon la and was found in 33.33% of the patients. The second one: IVS3 + 13C > T (5b far from the intron 5' consensus sequence), was found in 44.44% of the patients, while it was also identified in 16.67% of the controls. Simultaneously, 33.33% of the patients had both variants, and although, 16.67% of the controls also had the same combination of variants, 66.66% of the patients with those alleles had a familiar history of Autism. The third and fourth SNP: IVS5 + 40T > G and IVS-70A > G were identified in two different patients. None of the last three SNPs have been reported at the SNP database (dbSNP). The proximity of SNP: IVS3 + 13C > T with the consensus and interaction sequence with U1 nucleoriboprotein, could disturb the normal splicing of mRNA. This is in agreement with the evidence of lower levels of GABA-A receptors in autistic brains; so, it could be a common variant, that by itself could not cause a phenotypic effect, but joined to other variants with the same gene, in different related genes or with epigenetic changes, could explain the autistic phenotype and its heterogeneity.
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June 2007

Medical genetics in Zulia, a State of Venezuela.

Community Genet 2004 ;7(2-3):153-6

Unit of Medical Genetics, Faculty of Medicine, Zulia University, Maracaibo, Venezuela.

Zulia is a state located in the northwest of Venezuela. Congenital malformations, deformities and chromosomal anomalies are the second cause of infant and neonatal mortality. There are seven public and private groups providing genetic services, the most important of which, the Medical Genetic Unit at the Zulia University was created in 1973. So far, this unit has provided genetic services to 12,000 families, and has been responsible for undergraduate and postgraduate education in human and medical genetics. Prenatal diagnosis is performed at the Unit and a private practice group, the most frequent referral reason being advanced maternal age. The most frequent genetic diseases in the state are Huntington's disease, sickle cell anemia, neural tube defects and Down's syndrome. Research in genetics includes the clinical, epidemiological and molecular characterization of hereditary diseases, cancer, reproductive problems and genetic diversity. Other public groups are conducting research on dementias, including Alzheimer's disease, and on the genotoxic effects of environmental pollutants.
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http://dx.doi.org/10.1159/000080788DOI Listing
April 2005

Human disorganization complex, as a polytopic blastogenesis defect: a new case.

Am J Med Genet A 2004 Mar;125A(2):181-5

Unidad de Genética Médica, de la Facultad de Medicina de La Universidad del Zulia, Maracaibo, Venezuela.

We describe a baby girl of 4,000 g and 55 cm with supernumerary, malformed, and partially duplicated lower limbs, malformed and partially duplicated pelvis, spina bifida, coccygeal dermal sinus, ectopic anus located in the right buttock, duplicated internal genitalia, rectovaginal fistula, ileal atresia, Meckel diverticulum, and various renal system anomalies. We think that this phenotype is a new case of disorganization in humans (DsH) and postulate that this condition constitutes a polytopic defect of the blastogenesis. In this case, the presence of a malformation pattern involving structures in different parts of the body and organs derived from all of the germ layers, suggests that the pathogenetic event most probably occurred during blastogenesis affecting various progenitors fields.
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http://dx.doi.org/10.1002/ajmg.a.20307DOI Listing
March 2004

[Carrier detection of Duchenne/Becker muscular dystrophy by analysis of STRs loci linked to the gene of dystrophin in Venezuelan families].

Invest Clin 2002 Dec;43(4):239-54

Unidad de Genética Médica, Universidad del Zulia, Maracaibo, Venezuela.

The Duchenne/Becker Muscular Dystrophy (DMD/BMD) is an X linked recessive lethal disease. The female carrier will transmit the disease gene to half of her sons and half of her daughters; half of the daughters will be carriers, while half will be normal. Half of the sons will be normal and, on average, half will have the disease. It is of particular relevance to be able to detect carrier status among female relatives of the patients for genetic counseling and prenatal diagnosis. The method of Short Tandem Repeat (STR) sequence polymorphism analysis can determine haplotype at normal status or at risk status and, to establish genetic linkage between the mutated gene and the segregated haplotype. We have analyzed 105 members from 15 unrelated Venezuelan families with one or more siblings affected with DMD/DMB and 7 unrelated males. Of the 105, 37 were male (26 affected and 11 normal) and 68 were female. STR sequences (STR44, STR45, STR49, STR50, STR3'DYS) of the gene of the Dystrophin were amplified by polymerase chain reaction (PCR) to analyze allelic polymorphism in the families. Five of the 15 families (33%) had a deletion of one or several of the exons. Of the 68 females, 27 (39.7%) were carriers, 27 (39.7%) were non-carriers and in 14 cases (20.58%) it was not possible to reach a definitive diagnosis. The definitive diagnosis could be established in 79% of the females. This analysis also shows that the mutation occurred on the grandpaternal X chromosome in one family. Hemizygocity was detected and carrier status ascertained in the mother of other patient and in one family we were able to do prenatal diagnosis. The germinal mosaicism could not be excluded in 3 patients.
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December 2002

Del(1)(q23) in a patient with Hutchinson-Gilford progeria.

Am J Med Genet 2002 Dec;113(3):298-301

Unidad de Genética Médica, Facultad de Medicina de La Universidad del Zulia, Maracaibo, Venezuela.

A 9-year-old patient with the classical clinical picture of Hutchinson-Gilford progeria (HGP) is described. The karyotype shows a 46,XY,del(1)(q23) constitution. Our findings suggest that the interval 1q23 may play a roll in the etiology of HGP. A perturbation in glycosylation in connective tissue has been demonstrated in patients with this condition. This abnormality may be due to a defect in the UDP-galactose:beta-N-acetylglucosamina-beta-1,4-galactosyltransferase 3 (B4GALT3) gene that has been mapped in the interval 1q21-23. The cytogenetical analyses of this patient suggest that the B4GALT3 gene could be involved in the pathogenesis of HGP.
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http://dx.doi.org/10.1002/ajmg.10753DOI Listing
December 2002