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001-es BibID:BIBFORM095949
035-os BibID:(cikkazonosító)664548
Első szerző:Nagy Orsolya (PhD hallgató)
Cím:Case Report : Expressive Speech Disorder in a Family as Hallmark of 7q31 Deletion Involving the FOXP2 Gene / Orsolya Nagy, Judit Kárteszi, Beatrix Elmont, Anikó Ujfalusi
Megjegyzések:Pathogenic variants of FOXP2 gene were identified first as a monogenic cause of childhood apraxia of speech (CAS), a complex disease that is associated with an impairment of the precision and consistency of movements underlying speech, due to deficits in speech motor planning and programming. FOXP2 variants are heterogenous; single nucleotide variants and small insertions/deletions, intragenic and large-scale deletions, as well as disruptions by structural chromosomal aberrations and uniparental disomy of chromosome 7 are the most common types of mutations. FOXP2-related speech and language disorders can be classified as "FOXP2-only," wherein intragenic mutations result in haploinsufficiency of the FOXP2 gene, or "FOXP2-plus" generated by structural genomic variants (i.e., translocation, microdeletion, etc.) and having more likely developmental and behavioral disturbances adjacent to speech and language impairment. The additional phenotypes are usually related to the disruption/deletion of multiple genes neighboring FOXP2 in the affected chromosomal region. We report the clinical and genetic findings in a family with four affected individuals having expressive speech impairment as the dominant symptom and additional mild dysmorphic features in three. A 7.87Mb interstitial deletion of the 7q31.1q31.31 region was revealed by whole genome diagnostic microarray analysis in the proband. The FOXP2 gene deletion was confirmed by multiplex ligation-dependent probe amplification (MLPA), and all family members were screened by this targeted method. The FOXP2 deletion was detected in the mother and two siblings of the proband using MLPA. Higher resolution microarray was performed in all the affected individuals to refine the extent and breakpoints of the 7q31 deletion and to exclude other pathogenic copy number variants. To the best of our knowledge, there are only two family-studies reported to date with interstitial 7q31 deletion and showing the core phenotype of FOXP2 haploinsufficiency. Our study may contribute to a better understanding of the behavioral phenotype of FOXP2 disruptions and aid in the identification of such patients. We illustrate the importance of a targeted MLPA analysis suitable for the detection of FOXP2 deletion in selected cases with a specific phenotype of expressive speech disorder. The "phenotype first" and targeted diagnostic strategy can improve the diagnostic yield of speech disorders in the routine clinical practice.
Tárgyszavak:Orvostudományok Klinikai orvostudományok esettanulmány
7q31 deletion
expressive speech disorder
case report
Megjelenés:Frontiers in Pediatrics. - 9 (2021), p. 1-8. -
További szerzők:Kárteszi Judit Elmont Beatrix Ujfalusi Anikó (1968-) (gyermekorvos, laboratóriumi szakorvos)
Pályázati támogatás:GINOP-2.3.2-15-2016-00039
Internet cím:DOI
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001-es BibID:BIBFORM080278
Első szerző:Nagy Orsolya (PhD hallgató)
Cím:The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development / Orsolya Nagy, Judit Kárteszi, Marianna Hartwig, Rita Bertalan, Eszter Jávorszky, Éva Erhardt, Attila Patócs, Tamás Tornóczky, István Balogh, Anikó Ujfalusi
Megjegyzések:Gonadal dysgenesis (GD) is a rare cause of differences of sex development (DSD) with highly variable clinical and genetic conditions. Although identification of the causative genetic alterations can offer a clearer prognosis and personalized management to patients, more than 50% of the DSD cases still do not have an accurate genetic diagnosis. NR5A1 (previously known as SF-1), is a transcriptional regulator of genes required for normal development and functional maintenance of the gonads and the adrenal glands. Nucleotide sequence variants of the NR5A1 gene have been reported in numerous patients with GD with or without adrenal failure, however, microdeletion or partial deletion in the NR5A1 gene have been described only in a few GD cases. In this case study, we present a subject with female phenotype, mild clitoromegaly, partial GD and normal adrenal function. Cytogenetic analysis revealed a 46,XY SRY?+?karyotype. Microarray analysis did not identify pathogenic copy number variations, nor did panel sequencing of the most common DSD genes. Subsequently, multiplex ligation-dependent probe amplification (MLPA) was performed to test for small deletion/duplication of the most frequently affected genes associated with GD. Using this method, we have identified a novel heterozygous deletion involving exons 5 and 6 of the NR5A1 gene as the cause of abnormal sexual development of the patient. This report expands our knowledge about the range and pathogenetic role of NR5A1 mutations associated with partial gonadal dysgenesis in 46,XY DSD. Furthermore, our data emphasises the indispensable role of MLPA in the diagnosis of DSD with unclear etiology.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Molecular Biology Reports. - 46 : 5 (2019), p. 5595-5601. -
További szerzők:Kárteszi Judit Hartwig Marianna Bertalan Rita Jávorszky Eszter (gyermekgyógyász) Erhardt Éva Patócs Attila Tornóczky Tamás Balogh István (1972-) (molekuláris biológus, genetikus) Ujfalusi Anikó (1968-) (gyermekorvos, laboratóriumi szakorvos)
Pályázati támogatás:GINOP-2.3.2-15-2016-00039
Internet cím:Szerző által megadott URL
Intézményi repozitóriumban (DEA) tárolt változat
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