Quantitative phenotypic and network analysis of 1q44 microdeletion for microcephaly

Raun, Nicholas; Mailo, Janette; Spinelli, Egidio; He, Xu; McAvena, Sarah; Brand, Logan; O’Sullivan, Julia; Andersen, John; Richer, Lawrence; Tang-Wai, Richard; Bolduc, François V.

doi:10.1002/ajmg.a.38139

Cited by 14 publications

(14 citation statements)

References 20 publications

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“…However, in the genetic study of our patient, an alteration was found in the SMYD3 and NLRP3 genes. These genes are postulated as possible causes of microcephaly in another publication 2…”

Section: Discussionmentioning

confidence: 99%

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Phenotype and variations associated with the deletion of the 1q44 cytoband and the pathogenic duplication in the 9q32q34.3 cytobands

et al. 2020

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The advance in the human genetic field has permitted to identify small chromosome alterations and associate them to a specific phenotype. However, there are many mutations that have not yet been described in the literature. We describe the clinical case of a term newborn with appropriate weight to its gestational age, without perinatal background of interest that, at birth, presented: macrocephaly, hypertelorism, low-set ears, prominent forehead, micrognathia, camptodactyly, bilateral cryptorchidism, inspiratory stridor with the cry, multifocal systolic murmur, wide anterior fontanel and hypotonia of mixed characteristics and in whom a deletion of the 1q44 cytoband and a pathogenic duplication in the 9q32q34.3 cytoband were detected. We perform a review of the literature.

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“…However, in the genetic study of our patient, an alteration was found in the SMYD3 and NLRP3 genes. These genes are postulated as possible causes of microcephaly in another publication 2…”

Section: Discussionmentioning

confidence: 99%

“…In 90% of the cases, they present alterations in the central nervous system, the most common is the corpus callosum’s agenesis and the less frequent, hydrocephalus and delay in myelinisation 3 5. Seizures, appearing between 6 months and 3 years, have been reported in 85% 2 6 7…”

Section: Discussionmentioning

confidence: 99%

Phenotype and variations associated with the deletion of the 1q44 cytoband and the pathogenic duplication in the 9q32q34.3 cytobands

et al. 2020

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“…All six genes shared the same cyto-band: 1q44; therefore, we suggest this location to be further investigated for a relation with HCC in all patients in general (since 9.31% of all patients had an alteration in this cyto-band) and children in specific. 1q44 has been linked in other studies to abnormalities like microcephaly, seizures, and other diseases [ 41 ]. More genes were found in the elderly group (299 genes).…”

Section: Discussionmentioning

confidence: 99%

Integrated analysis of the impact of age on genetic and clinical aspects of hepatocellular carcinoma

Atyah

Yin

Zhou

et al. 2018

Aging

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Despite the rapid growing and aging of populations worldwide, our knowledge on hepatocellular carcinoma (HCC) is still age-standardized rather than age-specific, with only few studies exploring the topic from a genetic point of view. Here, we analyze clinical and genetic aspects of HCC in patients of different age groups with the major attention directed to children (≤20 y) and elderly groups (≥80 y). A number of significant differences were found in elderly patients compared to children group, including smaller tumor size (P=0.001) and improved survival rates (P=0.002). Differences in gene mutations, copy number variants, and mRNA expressions were identified between the groups, with alteration rates for some genes like AKR1B10 increasing significantly with the age of patients. Immunohistochemistry testing of AKR1B10 showed a significant difference in expression levels at the age of 40 (30.77% high expression rate in patients younger than 40 compared to 51.57% in older patients) (P=0.043). Expression levels also differed between HCC tissues (49.64%) and near-tumor tissues (6.58%) (P<0.001). These findings contribute to the limited data available regarding the age-specific aspects of HCC patients, and support the need to address potential differences in the diagnosis, treatment, and prevention strategies of HCC.

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“…Duplication involving AKT3 can cause macrocephaly [ 33 ]. A report on a boy who had a 4.1 Mb terminal deletion in 1q44 stated that the patient had MIC, the deletion encompasses the HNRNPU gene but not AKT3 [ 34 ]. A similar finding was reported on another patient who had a de novo 1.2 Mb interstitial deletion and had MIC, the deletion encompasses ZBTB18 and HNRNPU genes but not AKT3 [ 35 ].…”

Section: Discussionmentioning

confidence: 99%

“…They also found the same abnormalities in three patients out of four who had ZBTB18 mutation [ 11 ]. This is not the case in all the patients with deletion or mutation in ZBTB18 gene as some had a normal corpus callosum, and the authors have related this to the incomplete penetrance of the gene [ 34 ].…”

Section: Discussionmentioning

confidence: 99%

Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation

et al. 2018

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BackgroundMicrodeletion of 1q43q44 causes a syndrome characterized by intellectual disability (ID), speech delay, seizures, microcephaly (MIC), corpus callosum abnormalities (CCA) and characteristic facial features. Duplication of 4q is presented with minor to severe ID, MIC and facial dysmorphism. We aimed to verify the correlation between genotype/phenotype in a patient with 1q43q44 deletion associated with 4q32.1q35.2 duplication.Case presentationWe report on a 3 year-old female patient with delayed motor and mental milestones, MIC and facial dysmorphism. She is a child of non-consanguineous parents and no similarly affected family members. CT brain showed abnormal gyral patterns, hypogenesis of corpus callosum and bilateral deep Sylvian fissure. Electroencephalogram showed frontotemporal epileptogenic focus. Her karyotype was revealed as 46,XX,add(1)(q44). Fluorescence in situ hybridization (FISH) using whole chromosome paint (WCP1) and subtelomere 1q revealed that the add segment was not derived from chromosome 1 and there was the deletion of subtelomere 1q. Multiple ligation probe amplification (MLPA) subtelomere kit revealed the deletion of 1q and duplication of 4q. Array CGH demonstrated the 6.5 Mb deletion of 1q and 31 Mb duplication of chromosome 4q.ConclusionThe phenotype of our patient mainly reflects the effects of haploinsufficiency of AKT3, HNRNPU, ZBTB18 genes associated with duplication of GLRA3, GMP6A, HAND2 genes. Patients presented with ID, seizures, MIC together with CCA are candidates for prediction of 1q43q44 microdeletion and cytogenomic analysis.

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Quantitative phenotypic and network analysis of 1q44 microdeletion for microcephaly

Cited by 14 publications

References 20 publications

Phenotype and variations associated with the deletion of the 1q44 cytoband and the pathogenic duplication in the 9q32q34.3 cytobands

Phenotype and variations associated with the deletion of the 1q44 cytoband and the pathogenic duplication in the 9q32q34.3 cytobands

Integrated analysis of the impact of age on genetic and clinical aspects of hepatocellular carcinoma

Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation

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