Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review

Maini, Ilenia; Ivanovski, Ivan; Iodice, Alessandro; Rosato, Simonetta; Pollazzon, Marzia; Mussini, Manuela; Belligni, Elga Fabia; Coutton, Charles; Marinelli, Maria; Barbieri, Veronica; Napoli, Manuela; Pascarella, Rosario; Sartori, Chiara; Madia, Francesca; Fusco, Carlo; Franchi, F; Street, Maria Elisabeth; Garavelli, Livia

doi:10.1159/000450718

Cited by 3 publications

(3 citation statements)

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“…In the literature, 6 cases with 17p13.1 microduplications have been described so far, and duplications ranged between 62.50 and 788 kb [Belligni et al, 2012;Coutton et al, 2012;Maini et al, 2016;Kuroda et al, 2014;Mooneyham et al, 2014]. Detailed clinical information of all cases regarding the 17p13.1 duplication syndrome is reported in Table 2 .…”

Section: Discussionmentioning

confidence: 99%

“…While the 17p13.1 microdeletion syndrome is well described [Komoike et al, 2010;Carvalho et al, 2014], to date only few cases of 17p13.1 microduplication have been reported [Belligni et al, 2012;Coutton et al, 2012;Kuroda et al, 2014;Mooneyham et al, 2014;Maini et al, 2016], and a distinct phenotype has not yet been defined. Intellectual disability was observed in all patients as the hallmark feature.…”

confidence: 99%

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17p13.1 Microduplication Syndrome in a Child, Familial Short Stature, and Growth Hormone Deficiency: A Case Report and Review of the Literature

Leka-Emiri

Petrou

Manolakos³

et al. 2018

Mol Syndromol

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To date, 6 cases of 17p13.1 microduplications have been described in the literature. Intellectual disability is the core feature, together with minor facial dysmorphisms and obesity. We describe the first case of a young patient with a maternally inherited microduplication in 17p13.1 presenting with growth hormone deficiency. The boy was addressed to the endocrine division for growth retardation (weight and height <3rd percentile). Besides minor facial dysmorphisms, physical and neurological examinations were normal except for motor dyspraxia. Basic blood tests and endocrinological investigations were normal, but IGF1 levels were low for his age. Growth hormone deficiency was confirmed. Hypothalamic pituitary MRI was normal. His karyotype was 46XY. Array-CGH analysis detected a 422-kb copy number gain in the spanning region 17p13.1 inherited from his mother. Although familial short stature is considered a “normal” variation of growth retardation, hormonal and genetic investigation is essential in the etiological diagnosis.

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Section: Discussionmentioning

confidence: 99%

17p13.1 Microduplication Syndrome in a Child, Familial Short Stature, and Growth Hormone Deficiency: A Case Report and Review of the Literature

Leka-Emiri

Petrou

Manolakos³

et al. 2018

Mol Syndromol

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“…The primary neurological phenotypes described in patients with de novo microdeletions and microduplications of this locus are intellectual disability and seizures (Komoike et al, 2010; Schluth‐Bolard et al, 2010; Belligni et al, 2012; Zeesman et al, 2012; Giordano et al, 2014; Kuroda et al, 2014). Interestingly, males with de novo 17p13.1 microduplications that included the FXR2 region can develop seizures (Belligni et al, 2012; Mooneyham et al, 2014; Maini et al, 2016). In contrast, no cases with a de novo 17p13.1 microdeletion that includes the FXR2 region in men have been reported with seizures.…”

Section: Introductionmentioning

confidence: 99%

Absence of RNA‐binding protein FXR2P prevents prolonged phase of kainate‐induced seizures

Rajan

Gastaldo

et al. 2021

EMBO Reports

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Status epilepticus (SE) is a condition in which seizures are not self‐terminating and thereby pose a serious threat to the patient's life. The molecular mechanisms underlying SE are likely heterogeneous and not well understood. Here, we reveal a role for the RNA‐binding protein Fragile X‐Related Protein 2 (FXR2P) in SE. Fxr2 KO mice display reduced sensitivity specifically to kainic acid‐induced SE. Immunoprecipitation of FXR2P coupled to next‐generation sequencing of associated mRNAs shows that FXR2P targets are enriched in genes that encode glutamatergic post‐synaptic components. Of note, the FXR2P target transcriptome has a significant overlap with epilepsy and SE risk genes. In addition, Fxr2 KO mice fail to show sustained ERK1/2 phosphorylation induced by KA and present reduced burst activity in the hippocampus. Taken together, our findings show that the absence of FXR2P decreases the expression of glutamatergic proteins, and this decrease might prevent self‐sustained seizures.

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Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders

Magini

Scarano

Donati³

et al. 2019

Gene

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Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review

Cited by 3 publications

References 10 publications

17p13.1 Microduplication Syndrome in a Child, Familial Short Stature, and Growth Hormone Deficiency: A Case Report and Review of the Literature

17p13.1 Microduplication Syndrome in a Child, Familial Short Stature, and Growth Hormone Deficiency: A Case Report and Review of the Literature

Absence of RNA‐binding protein FXR2P prevents prolonged phase of kainate‐induced seizures

Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders

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