Identical twins with lumbosacral lipomyelomeningocele

Hanaei, Sara; Nejat, Farideh; Mortazavi, Abolghasem; Habibi, Zohreh; Esmaeili, Arash; Khashab, Mostafa El

doi:10.3171/2014.10.peds1494

Cited by 5 publications

(5 citation statements)

References 18 publications

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“…Despite observation of multiplex nonsyndromic NTD cases in multigenerational NTD families as seen in 17 US and 14 Dutch families with more than 1 NTD-affected person, there are other NTD cases that are simplex and sporadic as seen in identical twins with lumbosacral lipomyelomeningocele with no known familiar history of NTDs [ 201 , 202 ]. This suggests that NTDs have a multifactorial genetic etiology.…”

Section: Human Spina Bifida Genesmentioning

confidence: 99%

Spina Bifida: Pathogenesis, Mechanisms, and Genes in Mice and Humans

et al. 2017

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Spina bifida is among the phenotypes of the larger condition known as neural tube defects (NTDs). It is the most common central nervous system malformation compatible with life and the second leading cause of birth defects after congenital heart defects. In this review paper, we define spina bifida and discuss the phenotypes seen in humans as described by both surgeons and embryologists in order to compare and ultimately contrast it to the leading animal model, the mouse. Our understanding of spina bifida is currently limited to the observations we make in mouse models, which reflect complete or targeted knockouts of genes, which perturb the whole gene(s) without taking into account the issue of haploinsufficiency, which is most prominent in the human spina bifida condition. We thus conclude that the need to study spina bifida in all its forms, both aperta and occulta, is more indicative of the spina bifida in surviving humans and that the measure of deterioration arising from caudal neural tube defects, more commonly known as spina bifida, must be determined by the level of the lesion both in mouse and in man.

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Section: Human Spina Bifida Genesmentioning

confidence: 99%

Spina Bifida: Pathogenesis, Mechanisms, and Genes in Mice and Humans

et al. 2017

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“…The locations are not randomly distributed over the neural tube ( P = 2.0*10 −5 ) but show a preference for the occipital region, vertebrae C6 till T3 and the region between T8 and S1 with a peak at L5. (Richards et al, ; Tekkok, ; Etus et al, ; Singh and Singh, ; Srinivas et al, ; Ahmad and Mahapatra, ; Vashu and Liew, ; Bear et al, ; Carmody et al, ; Dankovcik et al, ; Singh and Singh, ; Singh et al, ; Vogel et al, ; Ahmed et al, ; Herman et al, ; Leykamm et al, ; Mahalik et al, ; Meuli et al, ; Sarici et al, ; van Aalst et al, ; Yang et al, ; De la Calle et al, ; Garg et al, ; Gressot et al, ; Hawasli et al, ; Leoni et al, ; Meadows and Hayes, ; Meunier et al, ; Perez da Rosa et al, ; Anand and Mahmoud, ; Canaz et al, ; Hanaei et al, ; Paul et al, ; Radtke et al, ; Ramdurg et al, ; Sargar et al, ; Wood et al, ; Arishima et al, ; Clark and Davidson, ; Dickman et al, ; Dorum et al, ; Santos et al, ; Sharma et al, ; Zhou and Zheng, ). [Color figure can be viewed at http://wileyonlinelibrary.com]…”

Section: Materials and Methods And Resultsmentioning

confidence: 99%

Single‐site neural tube closure in human embryos revisited

et al. 2017

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Since the multi-site closure theory was first proposed in 1991 as explanation for the preferential localizations of neural tube defects, the closure of the neural tube has been debated. Although the multi-site closure theory is much cited in clinical literature, single-site closure is most apparent in literature concerning embryology. Inspired by Victor Hamburgers (1900-2001) statement that "our real teacher has been and still is the embryo, who is, incidentally, the only teacher who is always right", we decided to critically review both theories of neural tube closure. To verify the theories of closure, we studied serial histological sections of 10 mouse embryos between 8.5 and 9.5 days of gestation and 18 human embryos of the Carnegie collection between Carnegie stage 9 (19-21 days) and 13 (28-32 days). Neural tube closure was histologically defined by the neuroepithelial remodeling of the two adjoining neural fold tips in the midline. We did not observe multiple fusion sites in neither mouse nor human embryos. A meta-analysis of case reports on neural tube defects showed that defects can occur at any level of the neural axis. Our data indicate that the human neural tube fuses at a single site and, therefore, we propose to reinstate the single-site closure theory for neural tube closure. We showed that neural tube defects are not restricted to a specific location, thereby refuting the reasoning underlying the multi-site closure theory. Clin. Anat. 30:988-999, 2017. © 2017 Wiley Periodicals, Inc.

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“…The PubMed literature search for other familial lipomyelomeningocele cases identified 3 case reports involving affected siblings without any cases of transgenerational lipomyelomeningocele. 10 –12…”

Section: Resultsmentioning

confidence: 99%

“…This would be consistent with the prior 3 case reports of 2 siblings with lipomyelomeningoceles. 10 –12 Digenic inheritance could also permit phenotypic expression to occur from a pair of pathogenic variants inherited from one parent.…”

Section: Discussionmentioning

confidence: 99%

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Transgenerational Inheritance of Familial Lipomyelomeningocele

et al. 2017

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Lipomyelomeningocele is a type of neural tube defect characterized by lipomatous tissue causing a defect in the vertebrae, infiltrating the dura, and tethering the spinal cord. Despite significant neurologic consequences, the underlying etiology remains poorly understood. We present a father and son with remarkably similar presentations of lipomyelomeningocele. Genetic testing did not reveal an underlying cause but whole exome sequencing identified variants in the ARHGAP29 and RADIL genes in the proband and his affected father. Genetic analyses of asymptomatic family members revealed several carriers of the ARHGAP29 or RADIL variants, but only the proband and his father carried both variants, suggesting a possible shared genetic mechanism. Rare cases of siblings affected with lipomyelomeningocele have suggested the possibility of autosomal recessive or germline mosaicism. We present the first documented cases of transgenerational lipomyelomeningocele with important implications for family counseling about the recurrence of lipomyelomeningocele.

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Identical twins with lumbosacral lipomyelomeningocele

Cited by 5 publications

References 18 publications

Spina Bifida: Pathogenesis, Mechanisms, and Genes in Mice and Humans

Spina Bifida: Pathogenesis, Mechanisms, and Genes in Mice and Humans

Single‐site neural tube closure in human embryos revisited

Transgenerational Inheritance of Familial Lipomyelomeningocele

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