Mens inversus in corpore inverso? Language lateralization in a boy with situs inversus totalis

Schuler, Anna‐Lisa; Kasprian, Gregor; Schwartz, Ernst; Seidl, Rainer; Diogo, Mariana Cardoso; Mitter, Christian; Prayer, Daniela; Bartha‐Doering, Lisa

doi:10.1016/j.bandl.2017.06.005

Cited by 15 publications

(20 citation statements)

References 43 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In contrast with the first report, the second study suggests an increased probability of atypical language dominance in SIT and a possible link with reversal of the cerebral torque, but here two participants showed weak left/right handedness and the other suffered from left temporal lobe epilepsy (Ihara et al 2010). A recent case-study, described typical left-lateralized neural language organization in a right handed boy with SIT that showed reversed frontal and occipital petalia (Schuler et al 2017).…”

Section: Take Down Policycontrasting

confidence: 87%

Brain structural and functional asymmetry in human situs inversus totalis

Vingerhoets

Hou

et al. 2018

Brain Struct Funct

View full text Add to dashboard Cite

Magnetic resonance imaging was used to investigate brain structural and functional asymmetries in 15 participants with complete visceral reversal (situs inversus totalis, SIT). Language-related brain structural and functional lateralization of SIT participants, including peri-Sylvian gray and white matter asymmetries and hemispheric language dominance, was similar to those of 15 control participants individually matched for sex, age, education, and handedness. In contrast, the SIT cohort showed reversal of the brain (Yakovlevian) torque (occipital petalia and occipital bending) compared to the control group. Secondary findings suggested different asymmetry patterns between SIT participants with (n = 6) or without (n = 9) primary ciliary dyskinesia (PCD, also known as Kartagener syndrome) although the small sample sizes warrant cautious interpretation. In particular, reversed brain torque was mainly due to the subgroup with PCD-unrelated SIT and this group also included 55% left handers, a ratio close to a random allocation of handedness. We conclude that complete visceral reversal has no effect on the lateralization of brain structural and functional asymmetries associated with language, but seems to reverse the typical direction of the brain torque in particular in participants that have SIT unrelated to PCD. The observed differences in asymmetry patterns of SIT groups with and without PCD seem to suggest that symmetry breaking of visceral laterality, brain torque, and language dominance rely on different mechanisms.

show abstract

Section: Take Down Policycontrasting

confidence: 87%

Brain structural and functional asymmetry in human situs inversus totalis

Vingerhoets

Hou

et al. 2018

Brain Struct Funct

View full text Add to dashboard Cite

show abstract

“…Some studies based on small samples have suggested that aspects of brain structural asymmetry can be altered in SI [74][75][76][77] . Indeed, this was previously assessed in the same SI subjects and controls as analyzed in the present study 29,78 -briefly, planum temporale and arcuate fasciculus asymmetries were not altered in SI, but the overall cerebral torque showed evidence of left-right reversal in non-PCD SI.…”

Section: Discussionmentioning

confidence: 99%

The genetics of situs inversus without primary ciliary dyskinesia

Postema

Carrión-Castillo

Fisher

et al. 2020

Sci Rep

View full text Add to dashboard Cite

Situs inversus (Si), a left-right mirror reversal of the visceral organs, can occur with recessive primary ciliary Dyskinesia (pcD). However, most people with Si do not have pcD, and the etiology of their condition remains poorly studied. We sequenced the genomes of 15 people with SI, of which six had PCD, as well as 15 controls. Subjects with non-PCD SI in this sample had an elevated rate of lefthandedness (five out of nine), which suggested possible developmental mechanisms linking brain and body laterality. The six SI subjects with PCD all had likely recessive mutations in genes already known to cause pcD. two non-pcD Si cases also had recessive mutations in known pcD genes, suggesting reduced penetrance for pcD in some Si cases. one non-pcD Si case had recessive mutations in PKD1L1, and another in CFAP52 (also known as WDR16). Both of these genes have previously been linked to SI without PCD. However, five of the nine non-PCD SI cases, including three of the left-handers in this dataset, had no obvious monogenic basis for their condition. Environmental influences, or possible random effects in early development, must be considered.

show abstract

“…Abnormal symmetry of the brain -both increased asymmetry as well as decreased asymmetry -has been reported in dyslexics (5,13,39). Whereas some studies report a typical left hemispheric language lateralization in the SI brain, others report a reversal of the language center to the opposite hemisphere (22)(23)(24)(25)(26).…”

Section: Discussionmentioning

confidence: 99%

“…While DD has been associated with various anatomical and functional changes in the brain (21), a handful of reports have investigated brain anatomy and functionality in individuals with situs inversus (for example (22)(23)(24)(25)(26)). Interestingly, a range of neurodevelopmental disorders, such as autism, schizophrenia and DD, has been associated with laterality defects in the brain (27).…”

Section: Introductionmentioning

confidence: 99%

Rare variants in dynein heavy chain genes in two individuals withsitus inversusand developmental dyslexia

Bieder

Einarsdottir

Matsson

et al. 2020

Preprint

View full text Add to dashboard Cite

Background: Developmental dyslexia (DD) is a neurodevelopmental learning disorder with high heritability. A number of candidate susceptibility genes have been identified, some of which are linked to the function of the cilium, an organelle regulating left-right asymmetry development in the embryo. Furthermore, it has been suggested that disrupted left-right asymmetry of the brain may play a role in neurodevelopmental disorders such as DD.Methods: Here, we studied two individuals with co-occurring situs inversus (SI) and DD using whole genome sequencing to identify single nucleotide variants or copy number variations of importance for DD and SI. Results: Individual 1 had primary ciliary dyskinesia (PCD), a rare, autosomal recessive disorder with oto-sino-pulmonary phenotype and SI. We identified two rare nonsynonymous variants in the dynein axonemal heavy chain 5 gene (DNAH5): c.7502G>C;p.(R2501P), a previously reported variant predicted to be damaging and c.12043T>G;p.(Y4015D), a novel variant predicted to be damaging. Ultrastructural analysis of the cilia revealed a lack of outer dynein arms and normal inner dynein arms. MRI of the brain revealed no significant abnormalities. Individual 2 had non-syndromic SI and DD. In individual 2, one rare variant (c.9110A>G;p.(H3037R)) in the dynein axonemal heavy chain 11 gene (DNAH11), coding for another component of the outer dynein arm, was identified. Conclusions:We identified the likely genetic cause of SI and PCD in one individual, and a possibly significant heterozygosity in the other, both involving dynein genes. Given the present evidence, it is unclear if the identified variants also predispose to DD, but further studies into the association are warranted.

show abstract

Mens inversus in corpore inverso? Language lateralization in a boy with situs inversus totalis

Cited by 15 publications

References 43 publications

Brain structural and functional asymmetry in human situs inversus totalis

Brain structural and functional asymmetry in human situs inversus totalis

The genetics of situs inversus without primary ciliary dyskinesia

Rare variants in dynein heavy chain genes in two individuals withsitus inversusand developmental dyslexia

Contact Info

Product

Resources

About