Late-onset epileptic spasms in a patient with 22q13.3 deletion syndrome

Ishikawa, Nobutsune; Kobayashi, Yoshiyuki; Fujii, Yuji; Yamamoto, Toshiyuki; Kobayashi, Masao

doi:10.1016/j.braindev.2015.06.002

Cited by 11 publications

(9 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Twelve case studies found in the literature reported kidney disorders in individuals with PMS ( Table 2 ) [ 8 , 10 , 11 , 12 , 13 , 14 , 16 , 17 , 18 , 19 , 20 , 47 ]. Ismail et al (2018) described a 16-year-old female who was referred after complaints of convulsions and renal problems.…”

Section: Resultsmentioning

confidence: 99%

“…Fontes et al (2015) presented a case with a deletion on 22q13.33 in which ultrasound revealed left kidney agenesis [ 10 ]. Ishikawa et al (2015) presented a 5-year-old boy diagnosed with a multicystic dysplastic kidney and seizures [ 13 ]. Toruner et al (2009) presented case studies of sudden infant death syndrome (SIDS), including one individual with a 22q13 deletion [ 20 ].…”

Section: Resultsmentioning

confidence: 99%

“…The types of kidney disorders reported in the literature include renal cysts, renal hypoplasia or agenesis, hydronephrosis, vesicoureteral reflux, kidney dysplasia, horseshoe kidneys, and pyelectasis [ 2 , 3 , 5 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 ]. Renal cysts are pouches of fluid of varying sizes that are diagnosed through ultrasound and eventually drained or surgically removed when necessary [ 22 , 23 ].…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

State of the Science for Kidney Disorders in Phelan-McDermid Syndrome: UPK3A, FBLN1, WNT7B, and CELSR1 as Candidate Genes

McCoy

Sarasua

DeLuca

et al. 2022

Genes

View full text Add to dashboard Cite

Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by chromosomal rearrangements affecting the 22q13.3 region or by SHANK3 pathogenic variants. The scientific literature suggests that up to 40% of individuals with PMS have kidney disorders, yet little research has been conducted on the renal system to assess candidate genes attributed to these disorders. Therefore, we first conducted a systematic review of the literature to identify kidney disorders in PMS and then pooled the data to create a cohort of individuals to identify candidate genes for renal disorders in PMS. We found 7 types of renal disorders reported: renal cysts, renal hypoplasia or agenesis, hydronephrosis, vesicoureteral reflux, kidney dysplasia, horseshoe kidneys, and pyelectasis. Association analysis from the pooled data from 152 individuals with PMS across 22 articles identified three genomic regions spanning chromosomal bands 22q13.31, 22q13.32, and 22q13.33, significantly associated with kidney disorders. We propose UPK3A, FBLN1, WNT7B, and CELSR1, located from 4.5 Mb to 5.5 Mb from the telomere, as candidate genes. Our findings support the hypothesis that genes included in this region may play a role in the pathogenesis of kidney disorders in PMS.

show abstract

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

State of the Science for Kidney Disorders in Phelan-McDermid Syndrome: UPK3A, FBLN1, WNT7B, and CELSR1 as Candidate Genes

McCoy

Sarasua

DeLuca

et al. 2022

Genes

View full text Add to dashboard Cite

show abstract

“…The 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, this syndrome is characterized by neurological deficits which include global developmental delay, moderate to severe intellectual impairment, absent or severely delayed speech, and neonatal hypotonia. In addition, more than 50 % of patients show autism or autistic-like behavior, and therefore it can be classified as a syndromic form of autism spectrum disorders (ASD) [ 29 ], some patients also have seizure manifestations [ 30 , 31 ], but patient 4 absence of autism and seizure manifestations, cerebellar ataxia is the prominent characteristic different from other patient with the deletion of 22q13.3 [ 30 , 31 ]. Development delay and cognitive impairment were common features of patient 4 and other patients [ 30 , 31 ].…”

Section: Discussionmentioning

confidence: 99%

“…In addition, more than 50 % of patients show autism or autistic-like behavior, and therefore it can be classified as a syndromic form of autism spectrum disorders (ASD) [ 29 ], some patients also have seizure manifestations [ 30 , 31 ], but patient 4 absence of autism and seizure manifestations, cerebellar ataxia is the prominent characteristic different from other patient with the deletion of 22q13.3 [ 30 , 31 ]. Development delay and cognitive impairment were common features of patient 4 and other patients [ 30 , 31 ]. SHANK3 located in the segmental deletion, the SHANK3 mRNA is localized to proximal and distal dendrites, and is highly expressed the hippocampus, cerebellar granular cells, caudate putamen and thalamic nuclei.…”

Section: Discussionmentioning

confidence: 99%

Clinical and molecular cytogenetic analyses of four patients with imbalanced translocations

Liu

Huang

et al. 2016

Mol Cytogenet

View full text Add to dashboard Cite

BackgroundChromosomal abnormalities that result in genomic imbalances are main causes of congenital and developmental anomalies including intellectual disability and multiple congenital malformations. In this report we describe four patients from three families with imbalanced translocations. Only a small percentage of imbalanced translocation individuals can be born to live, most of them were aborted in embryonic period. It is of great significances to precisely analysis the chromosome variation to study the relationship between genotype and phenotype.ResultsFour patients showed common clinical manifestations including delayed growth, intellectual disability, language barrier and facial dysmorphisms. In addition to the above features, lower limbs dysplasia and both foot eversion were found in patient 1, brachydactylic hand, cerebellar ataxia and congenital heart defects were also found in patient 4. Conventional karyotype analysis revealed abnormal karyotypes 46, XX, der (6) t (6: 10) (p23; q24), 46, XX, der (20) t (3; 20) (p23; p13) and 46, XX, der (22) t (3; 22) (q27; q13.3) in the four patients, respectively. Array-CGH analyses confirmed 23.6 Mb duplication on 10q25.1-q26.3 and 0.9 Mb deletions on 6p25.3, 19.9 Mb duplication on 3p24.3-p26.3 and 0.25 Mb deletion on 20p13 and 12.5 Mb duplication on 3q27.2-q29 and 1.9 Mb deletions on 22q13.2-q13.33 in the four patients, respectively.ConclusionParents with balanced translocation are passed the imbalanced chromosome to patient, and the partial monosomy and partial trisomy lead to multiple congenital malformations of four patients.Electronic supplementary materialThe online version of this article (doi:10.1186/s13039-016-0244-x) contains supplementary material, which is available to authorized users.

show abstract

Expression of SHANK3 in the Temporal Neocortex of Patients with Intractable Temporal Epilepsy and Epilepsy Rat Models

et al. 2016

View full text Add to dashboard Cite

SH3 and multiple ankyrin (ANK) repeat domain 3 (SHANK3) is a synaptic scaffolding protein enriched in the postsynaptic density of excitatory synapses. SHANK3 plays an important role in the formation and maturation of excitatory synapses. In the brain, SHANK3 directly or indirectly interacts with various synaptic molecules including N-methyl-D-aspartate receptor, the metabotropic glutamate receptor (mGluR), and α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor. Previous studies have shown that Autism spectrum disorder is a result of mutations of the main SHANK3 isoforms, which may be due to deficit in excitatory synaptic transmission and plasticity. Recently, accumulating evidence has demonstrated that overexpression of SHANK3 could induce seizures in vivo. However, little is known about the role of SHANK3 in refractory temporal lobe epilepsy (TLE). Therefore, we investigated the expression pattern of SHANK3 in patients with intractable temporal lobe epilepsy and in pilocarpine-induced models of epilepsy. Immunofluorescence, immunohistochemistry, and western blot analysis were used to locate and determine the expression of SHANK3 in the temporal neocortex of patients with epilepsy, and in the hippocampus and temporal lobe cortex of rats in a pilocarpine-induced epilepsy model. Double-labeled immunofluorescence showed that SHANK3 was mainly expressed in neurons. Western blot analysis confirmed that SHANK3 expression was increased in the neocortex of TLE patients and rats. These results indicate that SHANK3 participates in the pathology of epilepsy.

show abstract

Late-onset epileptic spasms in a patient with 22q13.3 deletion syndrome

Cited by 11 publications

References 10 publications

State of the Science for Kidney Disorders in Phelan-McDermid Syndrome: UPK3A, FBLN1, WNT7B, and CELSR1 as Candidate Genes

State of the Science for Kidney Disorders in Phelan-McDermid Syndrome: UPK3A, FBLN1, WNT7B, and CELSR1 as Candidate Genes

Clinical and molecular cytogenetic analyses of four patients with imbalanced translocations

Expression of SHANK3 in the Temporal Neocortex of Patients with Intractable Temporal Epilepsy and Epilepsy Rat Models

Contact Info

Product

Resources

About