17q12 Recurrent Deletions and Duplications: Description of a Case Series with Neuropsychiatric Phenotype

Milone, Roberta; Tancredi, Raffaella; Cosenza, Angela; Ferrari, Anna Rita; Scalise, Roberta; Cioni, Giovanni; Battini, Roberta

doi:10.3390/genes12111660

Cited by 6 publications

(6 citation statements)

References 43 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A 2.77 Mb deletion at 1q21.1q21.2 involving 1q21.1 syndrome. Patients with this syndrome often experience delayed development, microcephaly, ASD, and intellectual disability and display incomplete penetrance and variable phenotype [ 40 ].…”

Section: Resultsmentioning

confidence: 99%

The Use of CGH Arrays for Identifying Copy Number Variations in Children with Autism Spectrum Disorder

Kucińska,

Hawuła,

Rutkowska

et al. 2024

Brain Sciences

View full text Add to dashboard Cite

Autism spectrum disorders (ASDs) encompass a broad group of neurodevelopmental disorders with varied clinical symptoms, all being characterized by deficits in social communication and repetitive behavior. Although the etiology of ASD is heterogeneous, with many genes involved, a crucial role is believed to be played by copy number variants (CNVs). The present study examines the role of copy number variation in the development of isolated ASD, or ASD with additional clinical features, among a group of 180 patients ranging in age from two years and four months to 17 years and nine months. Samples were taken and subjected to array-based comparative genomic hybridization (aCGH), the gold standard in detecting gains or losses in the genome, using a 4 × 180 CytoSure Autism Research Array, with a resolution of around 75 kb. The results indicated the presence of nine pathogenic and six likely pathogenic imbalances, and 20 variants of uncertain significance (VUSs) among the group. Relevant variants were more prevalent in patients with ASD and additional clinical features. Twelve of the detected variants, four of which were probably pathogenic, would not have been identified using the routine 8 × 60 k microarray. These results confirm the value of microarrays in ASD diagnostics and highlight the need for dedicated tools.

show abstract

Section: Resultsmentioning

confidence: 99%

The Use of CGH Arrays for Identifying Copy Number Variations in Children with Autism Spectrum Disorder

Kucińska,

Hawuła,

Rutkowska

et al. 2024

Brain Sciences

View full text Add to dashboard Cite

show abstract

“…However, none of the five fetuses with the 17q12 microduplication syndrome included in this study showed abnormal kidney development. The protein encoded by the LHX1 gene is an important regulator of the formation of the kidney and the urogenital system, and is also related to the development of the nervous system, playing a significant role in the growth and development and structural stability of the axons innerve cells ( 17 , 35 , 36 ). In this study, a fetus with the 17q12 microduplication syndrome displayed conditions consistent with the findings of previous literature, and its ultrasound phenotype showed mild ventriculomegaly and agenesis of the corpus callosum.…”

Section: Discussionmentioning

confidence: 99%

Prenatal ultrasound phenotypic and genetic etiology of the 17q12 microduplication syndrome

et al. 2022

View full text Add to dashboard Cite

BackgroundSeveral studies have reported on the clinical phenotype of the 17q12 microduplication syndrome, a rare autosomal dominant genetic disorder, in children and adults, but few have reported on its prenatal diagnosis. This study analyzed the prenatal ultrasound phenotypes of the 17q12 microduplication syndrome to improve the understanding, diagnosis, and monitoring of this disease in fetuses.MethodsA retrospective analysis of 8,200 pregnant women who had received an invasive antenatal diagnosis at tertiary referral hospitals between January 2016 and August 2021 was performed. Amniotic fluid or cord blood was sampled from the pregnant women for karyotyping and chromosome microarray analysis (CMA).ResultsThe CMA revealed microduplication in the 17q12 region of the genome in five fetuses, involving fragments of about 1.5–1.9 Mb. Five fetuses with the 17q12 microduplication syndrome had different prenatal ultrasound phenotypes, including duodenal obstruction (two fetuses); mild ventriculomegaly, dysplasia of the septum pellucidum, agenesis of the corpus callosum (one fetus); and a strong echo in the left ventricle only (one fetus). The ultrasound phenotype of one fetus was normal. Among the five fetuses with the 17q12 microduplication syndrome, the parents of three refused CNV segregation analysis, while CNV segregation analysis was performed for the remaining two fetuses to confirm whether the disorder was inherited maternally or paternally, with normal phenotypes. After genetic counseling, the parents of those two fetuses chose to terminate the pregnancy, while the parents of the three unverified fetuses continued the pregnancy, with normal follow-up after birth.ConclusionAlthough prenatal ultrasound phenotypes in fetuses with the 17q12 microduplication syndrome are highly variable, our study has highlighted the distinct association between duodenal obstruction and the 17q12 microduplication syndrome. Understanding the relationship between the pathogenesis of the 17q12 microduplication in prenatal ultrasound phenotypes and its long-term prognosis will contribute to better genetic counseling concerning the 17q12 microduplication syndrome, which is still a challenge.

show abstract

“…It varies from asymptomatic to neurodevelopmental disorders, including developmental delay, attention deficit hyperkinetic disorder, epilepsy, autism spectrum disorder, intellectual disabilities, behavioral problems (aggression and compulsion disorders), to multisystem anomalies and abnormalities. 4 – 7 The duplication is commonly diagnosed by chromosomal microarray (CMA) and fails to be identified by karyotyping. 6 The treatment of choice is a multidisciplinary approach.…”

Section: Introductionmentioning

confidence: 99%

Complex neuropsychiatric presentation of 17q12 duplication syndrome: A case report

Das,

Samarasinghe,

Deva

et al. 2024

SAGE Open Medical Case Reports

View full text Add to dashboard Cite

The chromosomal band 17q12 is characterized by a high density of genes and is bordered by segmental duplications, the structural arrangement of which increases the susceptibility of the region to deletions and duplications. Duplication of 17q12 is a rare genetic condition associated with variable characteristics from clinically asymptomatic to intellectual disabilities, seizures, and behavioral problems. The variability in phenotype is primarily due to variable expressivity and incomplete penetrance. Diagnosis is mostly established by chromosomal microarray. Treatment involves a multidisciplinary approach. We present a case of a 43-year-old female who initially presented with hyperphagia and was eventually diagnosed with bulimia nervosa, anxiety, mood disorder, and personality disorder. Additional research is required to better understand the impact of 17q12 duplication syndrome on the development of bulimia nervosa since its pathogenesis has not been adequately described in the current literature.

show abstract

17q12 Recurrent Deletions and Duplications: Description of a Case Series with Neuropsychiatric Phenotype

Cited by 6 publications

References 43 publications

The Use of CGH Arrays for Identifying Copy Number Variations in Children with Autism Spectrum Disorder

The Use of CGH Arrays for Identifying Copy Number Variations in Children with Autism Spectrum Disorder

Prenatal ultrasound phenotypic and genetic etiology of the 17q12 microduplication syndrome

Complex neuropsychiatric presentation of 17q12 duplication syndrome: A case report

Contact Info

Product

Resources

About