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

Luengo, Wilmer Noé Delgado; Rodríguez, María Luisa Hernández; Pirela, Ivonne Valbuena; Ferrer, Sandra González; Corona, P.; Fonseca, Inara Chacón; Luengo, Juana Delgado; Morales-Machín, Alisandra; Fuentes, Lisbeth Borjas; Basalo, María Caridad Martínez; Chacín, Jesús

doi:10.1002/ajmg.a.20307

Cited by 11 publications

(3 citation statements)

References 13 publications

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“…This latter influence is thought to occur during the first 4 weeks of development when an embryo is susceptible to global morphogenetic influences which can affect lateralization, midline structure formation and limb development, all characteristics associated with disorganization disorder [ 13 ]. Hallmark features include internal organ, skeletal and extremity duplications (commonly polydactyly), defects attributable to amniotic band sequence (for example circumferential rings, digit reduction and facial clefts), renal agenesis, hamartomas and an imperforate anus [ 14 , 15 ]. The patient described in this case is thought to suffer from disorganization syndrome due to the shared features described above, including extremity duplication, in this case diplopodia.…”

Section: Discussionmentioning

confidence: 99%

A rare case of mobile diplopodia mistaken for polydactyly

2023

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We present a rare case of a mobile diplopodia in an infant with disorganization syndrome. This was initially mistaken for polydactyly due to the more typical association between these conditions. The resulting corrective surgery was more extensive and complicated than anticipated, with the removal of a partial foot duplication and reconstruction of residual hindfoot structures, rather than the planned digit amputation. We highlight the association of diplopodia with disorganization syndrome, discuss differentiating diplopodia from polydactyly and describe the surgical management of an unusual case.

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Section: Discussionmentioning

confidence: 99%

A rare case of mobile diplopodia mistaken for polydactyly

2023

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“…Ducks, cows, deer and other animals have also been reported (not shown) with similar Ppd -like, dramatic caudal or other ectopic limb duplications, suggesting that common fundamental vertebrate developmental pathways are susceptible to spontaneous mutations or environmental teratogens. Humans with ectopic lower limbs with and without pelvic anomalies or dipygus, have been described extensively in the literature [49–56] ; all cases occurred sporadically, not unlike the occurrence of Ppd .…”

Section: Discussionmentioning

confidence: 99%

A Novel Intergenic ETnII-β Insertion Mutation Causes Multiple Malformations in Polypodia Mice

et al. 2013

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Mouse early transposon insertions are responsible for ∼10% of spontaneous mutant phenotypes. We previously reported the phenotypes and genetic mapping of Polypodia, (Ppd), a spontaneous, X-linked dominant mutation with profound effects on body plan morphogenesis. Our new data shows that mutant mice are not born in expected Mendelian ratios secondary to loss after E9.5. In addition, we refined the Ppd genetic interval and discovered a novel ETnII-β early transposon insertion between the genes for Dusp9 and Pnck. The ETn inserted 1.6 kb downstream and antisense to Dusp9 and does not disrupt polyadenylation or splicing of either gene. Knock-in mice engineered to carry the ETn display Ppd characteristic ectopic caudal limb phenotypes, showing that the ETn insertion is the Ppd molecular lesion. Early transposons are actively expressed in the early blastocyst. To explore the consequences of the ETn on the genomic landscape at an early stage of development, we compared interval gene expression between wild-type and mutant ES cells. Mutant ES cell expression analysis revealed marked upregulation of Dusp9 mRNA and protein expression. Evaluation of the 5′ LTR CpG methylation state in adult mice revealed no correlation with the occurrence or severity of Ppd phenotypes at birth. Thus, the broad range of phenotypes observed in this mutant is secondary to a novel intergenic ETn insertion whose effects include dysregulation of nearby interval gene expression at early stages of development.

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“…Down’s syndrome has been the subject of research to improve the management of this syndrome [15]. Additional areas of research included hematological malignancies and colorectal cancer [16, 17], Y chromosome DNA sequencing in patients with ambiguous genitalia [18]and Turner syndrome [19]and rare diseases [20, 21]. The introduction of molecular biology techniques in 1992 paved the way for collaborative studies with Mexican and Colombian scientists on Duchenne’s muscular dystrophy, cystic fibrosis and hemophilia A [22].…”

Section: Genetic Education and Researchmentioning

confidence: 99%

Medical Genetics in Zulia, a State of Venezuela

González-Ferrer

Pineda-Bernal²,

Delgado-Luengo³

et al. 2004

Public Health Genomics

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

Cited by 11 publications

References 13 publications

A rare case of mobile diplopodia mistaken for polydactyly

A rare case of mobile diplopodia mistaken for polydactyly

A Novel Intergenic ETnII-β Insertion Mutation Causes Multiple Malformations in Polypodia Mice

Medical Genetics in Zulia, a State of Venezuela

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