Interstitial deletion of 5q33.3q35.1 in a girl with mild mental retardation

Spranger, Stephanie; Rommel, Birgit; Jauch, Anna; Bodammer, Robert; Mehl, Burkhard; Bullerdiek, J.

doi:10.1002/1096-8628(20000717)93:2<107::aid-ajmg5>3.0.co;2-8

Cited by 22 publications

(27 citation statements)

References 13 publications

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“…This gene was not associated to human pathologies so far. Only one case of a girl with a de novo deletion of 5q33.3q35.1 affected by psychomotor delay, minor facial anomalies and seizures was described, but we do not know if CYFIP2 expression was modified by this chromosomal abnormality (Spranger et al, 2000). By homology and analogy with CYFIP1, the function of the two CYFIP proteins may be very similar, as well as their role in neuronal maturation and connectivity.…”

Section: Genetics Of Cyfip1 and 2 Genes And Associated Genetic Patholmentioning

confidence: 98%

CYFIP family proteins between autism and intellectual disability: links with Fragile X syndrome

Abekhoukh

Bardoni

2014

Front. Cell. Neurosci.

101

104

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Intellectual disability (ID) and autism spectrum disorders (ASDs) have in common alterations in some brain circuits and brain abnormalities, such as synaptic transmission and dendritic spines morphology. Recent studies have indicated a differential expression for specific categories of genes as a cause for both types of disease, while an increasing number of genes is recognized to produce both disorders. An example is the Fragile X mental retardation gene 1 (FMR1), whose silencing causes the Fragile X syndrome, the most common form of ID and autism, also characterized by physical hallmarks. Fragile X mental retardation protein (FMRP), the protein encoded by FMR1, is an RNA-binding protein with an important role in translational control. Among the interactors of FMRP, CYFIP1/2 (cytoplasmic FMRP interacting protein) proteins are good candidates for ID and autism, on the bases of their genetic implication and functional properties, even if the precise functional significance of the CYFIP/FMRP interaction is not understood yet. CYFIP1 and CYFIP2 represent a link between Rac1, the WAVE (WAS protein family member) complex and FMRP, favoring the cross talk between actin polymerization and translational control.

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Section: Genetics Of Cyfip1 and 2 Genes And Associated Genetic Patholmentioning

confidence: 98%

CYFIP family proteins between autism and intellectual disability: links with Fragile X syndrome

Abekhoukh

Bardoni

2014

Front. Cell. Neurosci.

101

104

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“…Surprisingly, neither heart disease nor deafness or lymphedema were found in the patient described by Spranger et al (2000). The girl presented only with mild retardation, seizures, and minor facial anomalies, that is, small, deep set eyes, hypertelorism, bulbous nose, thin upper lip, and everted lower lip.…”

mentioning

confidence: 88%

“…Recently, Spranger et al (2000) described the case of a 4-year-old girl with a de novo deletion on 5q33.3q35.1 presenting only with mild psychomotor delay, minor facial anomalies, and seizures, at that time. Within the specific chromosomal region some genes have been mapped which may be responsible for some of the phenotypical features of the girl and probably also for neuropsychological dysfunction.…”

mentioning

confidence: 99%

Interstitial Deletion on Chromosome 5q33.3q35.1 in a 6-Year-Old Girl – Neuropsychological Findings and Follow-up in an Extremely Rare Chromosomal Aberration

Heubrock¹,

Spranger²,

Lex³

et al. 2003

Child Neuropsychology

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Interstitial deletion on chromosome 5q33.3q35.1 is an extremely rare chromosomal aberration for which a characteristic syndrome could not yet be delineated. In most patients with 5q deletions severe mental retardation is described. Recently, Spranger et al. (2000) described the case of a 4-year-old girl with a de novo deletion on 5q33.3q35.1 presenting only with mild psychomotor delay, minor facial anomalies, and seizures. The patient was admitted for outpatient neuropsychological assessment when she was 6.2 years old. Neurocognitive tests revealed an overall developmental delay of about 32 months and an intelligence score in the range of mild mental retardation. Her cognitive phenotype was characterized by a considerable visual-spatial deficit in the form of disorganized drawings or block designs indicating a profound lack of cohesion and overall global organization (decay of gestalt). The patient's behavioral phenotype was dominated by a distinct disinhibition syndrome demonstrating severe hyperactivity, utilization behavior, and aggressive behavior.

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“…Two previously reported cases had involved phenotypic features similar to this case. The first case was of a 4-year-old girl who presented with mild mental retardation, minor facial anomalies, and seizures4). The second case was of a 6-year-old girl who showed overall developmental delay, mild mental retardation, and severe overactivity5).…”

Section: Discussionmentioning

confidence: 99%

“…To our knowledge, only 2 cases with interstitial deletion of the band 5q33.3q35.1 have been reported until date. These cases showed common phenotypic features, including mental retardation and developmental delay45).…”

Section: Introductionmentioning

confidence: 98%

Interstitial deletion of 5q33.3q35.1 in a boy with severe mental retardation

et al. 2016

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Constitutional interstitial deletions of the long arm of chromosome 5 (5q) are quite rare, and the corresponding phenotype is not yet clearly delineated. Severe mental retardation has been described in most patients who present 5q deletions. Specifically, the interstitial deletion of chromosome 5q33.3q35.1, an extremely rare chromosomal aberration, is characterized by mental retardation, developmental delay, and facial dysmorphism. Although the severity of mental retardation varies across cases, it is the most common feature described in patients who present the 5q33.3q35.1 deletion. Here, we report a case of a de novo deletion of 5q33.3q35.1, 46,XY,del(5)(q33.3q35.1) in an 11-year-old boy with mental retardation; to the best of our knowledge this is the first case in Korea to be reported. He was diagnosed with severe mental retardation, developmental delay, facial dysmorphisms, dental anomalies, and epilepsy. Chromosomal microarray analysis using the comparative genomic hybridization array method revealed a 16-Mb-long deletion of 5q33. 3q35.1(156,409,412-172,584,708)x1. Understanding this deletion may help draw a rough phenotypic map of 5q and correlate the phenotypes with specific chromosomal regions. The 5q33.3q35.1 deletion is a rare condition; however, accurate diagnosis of the associated mental retardation is important to ensure proper genetic counseling and to guide patients as part of long-term management.

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Interstitial deletion of 5q33.3q35.1 in a girl with mild mental retardation

Cited by 22 publications

References 13 publications

CYFIP family proteins between autism and intellectual disability: links with Fragile X syndrome

CYFIP family proteins between autism and intellectual disability: links with Fragile X syndrome

Interstitial Deletion on Chromosome 5q33.3q35.1 in a 6-Year-Old Girl – Neuropsychological Findings and Follow-up in an Extremely Rare Chromosomal Aberration

Interstitial deletion of 5q33.3q35.1 in a boy with severe mental retardation

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