Sleep-Walking in Twins

Bakwin, Harry

doi:10.1016/s0140-6736(70)90058-9

Cited by 90 publications

(34 citation statements)

References 2 publications

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“…Although genetic factors have been implicated in sleepwalking, particularly when the trait persists in adulthood, no genes have been previously identified that contribute to this trait (30,31).…”

Section: Discussionmentioning

confidence: 99%

Syndromic patent ductus arteriosus: Evidence for haploinsufficientTFAP2Bmutations and identification of a linked sleep disorder

Mani

Radhakrishnan

Farhi

et al. 2005

Proc. Natl. Acad. Sci. U.S.A.

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Patent ductus arteriosus (PDA) is a common congenital heart disease that results when the ductus arteriosus, a muscular artery, fails to remodel and close after birth. A syndromic form of this disorder, Char syndrome, is caused by mutation in TFAP2B, the gene encoding a neural crest-derived transcription factor. Established features of the syndrome are PDA, facial dysmorphology, and fifth-finger clinodactyly. Disease-causing mutations are missense and are proposed to be dominant negative. Because only a small number of families have been reported, there is limited information on the spectrum of mutations and resulting phenotypes. We report the characterization of two kindreds (K144 and K145) with Char syndrome containing 22 and 5 affected members, respectively. Genotyping revealed linkage to TFAP2B in both families. Sequencing of TFAP2B demonstrated mutations in both kindreds that were not found among control chromosomes. Both mutations altered highly conserved bases in introns required for normal splicing as demonstrated by biochemical studies in mammalian cells. The abnormal splicing results in mRNAs containing frameshift mutations that are expected to be degraded by nonsense-mediated mRNA decay, resulting in haploinsufficiency; even if produced, the protein in K144 would lack DNA binding and dimerization motifs and would likely result in haploinsufficiency. Examination of these two kindreds for phenotypes that segregate with TFAP2B mutations identified several phenotypes not previously linked to Char syndrome. These include parasomnia and dental and occipital-bone abnormalities. The striking sleep disorder in these kindreds implicates TFAP2B-dependent functions in the normal regulation of sleep.human genetics ͉ parasomnia ͉ congenital heart defects ͉ Char

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Section: Discussionmentioning

confidence: 99%

Syndromic patent ductus arteriosus: Evidence for haploinsufficientTFAP2Bmutations and identification of a linked sleep disorder

Mani

Radhakrishnan

Farhi

et al. 2005

Proc. Natl. Acad. Sci. U.S.A.

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“…Epidemiological surveys including familial and twin studies have suggested a strong genetic implication in SW. 6,[13][14][15] Prevalence of SW in first-degree relatives of an affected subject has been estimated to be at least 10 times greater than that in the general population. 6 Two modes of inheritance have been proposed, multifactorial 6 and autosomal recessive with incomplete penetrance.…”

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confidence: 99%

HLA and genetic susceptibility to sleepwalking

et al. 2003

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HLA-DQB1 typing was performed in 60 Caucasian subjects with sleepwalking (SW) disorder and their families and 60 ethnically matched subjects without any diagnosed sleep disorder. A total of 21 sleepwalkers (35.0%) were DQB1*0501 positive vs eight (13.3%) controls (P ¼ 0.0056; odds ratio ¼ 3.5, 95% CI ¼ 1.4-8.7). The family data for all HLA subtypes were further assessed for allelic association with SW using the transmission-disequilibrium test. A significant excess transmission was observed for DQB1*05 and *04 alleles in familial cases, strongly suggesting that a DQB1 polymorphic amino acid might be more tightly associated than any single allele. Sequence screening revealed that Ser74 in the second exon shared by all DQB1*05 and *04 was 20 times transmitted against 4 times non-transmitted (P ¼ 0.001) in familial cases of SW. Thus, together with narcolepsy and REM sleep behavior disorder, these findings suggest that specific DQB1 genes are implicated in disorders of motor control during sleep.

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“…To what extent this presumed dysfunction in the regulation of SWS is similar to what has been found in other types of sleep disorders 39 and whether or not is related to the genetic predisposition to somnambulism 20,40,41 remains an open question.…”

Section: Discussionmentioning

confidence: 84%

Errata

2000

Sleep

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In the paper "Dynamics of the Slow Wave Activity during the NREM Sleep of Sleepwalkers and Controls Subjects", published in the September 15 issue of SLEEP, a methodological error occurred regarding the absolute values of the SWA. The values were expressed in microvolts squared, whereas they were really calculated in AD units squared. We have since made the conversion to microvolts, which has reduced the values by a factor of 7 approximately. The dynamic of the SWA is nonetheless similar. We apologize for the error.

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Sleep-Walking in Twins

Cited by 90 publications

References 2 publications

Syndromic patent ductus arteriosus: Evidence for haploinsufficientTFAP2Bmutations and identification of a linked sleep disorder

Syndromic patent ductus arteriosus: Evidence for haploinsufficientTFAP2Bmutations and identification of a linked sleep disorder

HLA and genetic susceptibility to sleepwalking

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