Angelman Syndrome Caused by Chromosomal Rearrangements: A Case Report of 46,XX,+der(13)t(13;15)(q14.1;q12)mat,-15 with an Atypical Phenotype and Review of the Literature

Niida, Yo; Sato, Hitoshi; Ozaki, Mamoru; Itoh, Masatsune; Ikeno, Kanju; Takase, Etsuko

doi:10.1159/000450847

Cited by 2 publications

(1 citation statement)

References 40 publications

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“…Currently, the patient has no difficulty eating and has a good appetite. This is in accordance with another case report of AS that showed there was no difficulty in eating syndrome [ 10 , 11 ] However, at three months old, our patient had difficulty sucking. Feeding problems usually occur in the first six months of life, such as uncoordinated sucking, poor breast attachment, and tongue thrusting.…”

Section: Discussionsupporting

confidence: 93%

The role of whole exome sequencing in the UBE3A point mutation of Angelman Syndrome: A case report

Triono

Iskandar

Nugrahanto

et al. 2022

Annals of Medicine &Amp; Surgery

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Introduction Angelman Syndrome (AS) is a rare disorder with a relatively well-defined phenotype caused by lack of expression of the maternally inherited ubiquitin-protein ligase E3A ( UBE3A ) gene in the brain. This article describes the role of genetic testing using whole-exome sequencing (WES) in detecting rare AS variants, a point mutation in the UBE3A gene. Case presentation We describe a rarely reported clinical presentation of AS in a two year and ten months old girl with severe developmental delay, movement and balance disorder, frequent smiling, apparent happy demeanor, speech impairment, absence of seizure, lack of sleep, and abnormal food-related behavior. Physical examination showed microcephaly, with facial characteristics of AS, ataxia gait, and truncal hypotonia. The electroencephalogram showed medium amplitude rhythmic 2-3c/s. Brain Magnetic Resonance Imaging revealed microcephaly, corpus callosum dysgenesis, and heterotopia grey matter on the bilateral lateral ventricle. WES was conducted to search pathogenic variants and showed a heterozygous mutation in exon 9 of the U BE3A gene, c.1513C > T (p.Arg505Ter). Conclusion Angelman syndrome is a neurodevelopmental disorder that has several underlying genetic etiologies. WES could detect a rare variant of Angelman syndrome, identified as the point mutation of the UBE3A gene, which cannot be seen with other modalities.

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Section: Discussionsupporting

confidence: 93%

The role of whole exome sequencing in the UBE3A point mutation of Angelman Syndrome: A case report

Triono

Iskandar

Nugrahanto

et al. 2022

Annals of Medicine &Amp; Surgery

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A Case with Angelman Syndrome Carried de novo der(15q;15q) By de novo Paternal Uniparental Disomy

Karaman Mercan,

Çiftçi,

Toylu

et al. 2024

Muğla Sıtkı Koçman Üniversitesi Tıp Dergisi

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Angelman syndrome (AS; OMIM 105830) is a congenital neurodevelopmental disorder typically caused by maternal chromosome 15q11.2-q13 deletion, Ubiquitin-protein ligase E3A (UBE3A) gene mutations, paternal uniparental disomy (UPD), or imprinting center mutations. The rate of sporadic Angelman syndrome carrying UPD is known to be 2-3%. Paternal UPD has been detected in approximately 2-3% of AS patients. Many reports have suggested that patients with UPD-associated AS cases are heterodisomic. We reported a case of a 4-year-old patient diagnosed with AS. She presented with dysmorphic features, including a wide mouth with protruding tongue, flexion of both fingers, drooling with mental retardation, absence of speech, disrupted sleep, without self-injuring behavior. Although electroencephalogram (EEG) findings are important to diagnosing AS, specific EEG and also magnetic resonance imaging (MRI) findings were not detected in our case. In the diagnostic process, which began with conventional cytogenetics, genetic analysis was completed using the next-generation sequencing method. A Robertsonian-type translocation of two long arms in derivative chromosome 15 was detected, defining the patient's karyotype as 45,XX,der(15;15)(q10;q10)dn. Haplotype analysis confirmed the presence of paternal uniparental disomy, indicating that the case carried a de novo rob(15q;15q) translocation. The literature, suggests that AS cases with UPD may exhibit milder clinical features compared to those with microdeletion. Consequently, AS cases involving UPD of chromosome 15 can sometimes be overlooked. Therefore, the case presented here serves as an example highlighting the need to evaluate individuals with translocations involving der(15;15) identified through conventional cytogenetics for potential UPD.

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Angelman Syndrome Caused by Chromosomal Rearrangements: A Case Report of 46,XX,+der(13)t(13;15)(q14.1;q12)mat,-15 with an Atypical Phenotype and Review of the Literature

Cited by 2 publications

References 40 publications

The role of whole exome sequencing in the UBE3A point mutation of Angelman Syndrome: A case report

The role of whole exome sequencing in the UBE3A point mutation of Angelman Syndrome: A case report

A Case with Angelman Syndrome Carried de novo der(15q;15q) By de novo Paternal Uniparental Disomy

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