A family case of a rare Xq28 duplication

Genetic factors contribute to the etiology of intellectual disability in 25–50 % of cases. Chromosomal abnormalities, such as microdeletions and microduplications, are the most significant genetic causes. We examined a family where two boys, aged 8 and 7, were diagnosed with mild intellectual dis...

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Vydáno v:	Vavilovskiĭ zhurnal genetiki i selekt͡s︡ii Ročník 29; číslo 5; s. 636 - 643
Hlavní autoři:	Kopytova, A. E., Tolmacheva, E. N., Emelina, D. A., Glotov, O. S., Miroshnikova, V. V., Usenko, T. S., Vasilyeva, O. Yu, Kasyanov, E. D., Fonova, E. A., Makarov, I. V., Lobanov, A. D., Mazo, G. E., Pchelina, S. N., Lebedev, I. N.
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	Russia (Federation) Siberian Branch of the Russian Academy of Sciences, Federal Research Center Institute of Cytology and Genetics, The Vavilov Society of Geneticists and Breeders 01.09.2025
Témata:	array-based comparative genomic hybridization clic2 copy number variations (cnvs) intellectual disability rab39b xq28 duplication syndrome CLIC2For RAB39B array-based comparative genomic hybridization copy number variations (CNVs) intellectual disability Xq28 duplication syndrome
ISSN:	2500-3259, 2500-0462, 2500-3259
On-line přístup:	Získat plný text
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Popis
Shrnutí:	Genetic factors contribute to the etiology of intellectual disability in 25–50 % of cases. Chromosomal abnormalities, such as microdeletions and microduplications, are the most significant genetic causes. We examined a family where two boys, aged 8 and 7, were diagnosed with mild intellectual disability. Using array-based comparative genomic hybridization, we detected a duplication of Xq28 in both brothers on the X chromosome inherited from a healthy mother with skewed (88 %) X-chromosome inactivation. The size of the rearrangement is 439.6 kilobases (kb). Eight genes are located in this region, including F8, MTCP1, BRCC3, VBP1, RAB39B, CLIC2, FUNDC2, and CMC4. This chromosomal region overlaps with the region of Xq28 duplication syndrome (OMIM 300815), characterized by intellectual disability, behavioral and psychiatric disorders, recurrent infections, atopic diseases, and specific facial features in affected male individuals. Whole-exome sequencing did not reveal pathogenic or likely pathogenic variants associated with neurodevelopmental disorders. These disorders have been previously linked to X-linked recessive single-nucleotide variants in RAB39B (OMIM 300271, 311510) and CLIC2 (OMIM 300886). An assessment of the clinical significance of the identified duplication, using the AutoCNV internet resource and original data, allowed us to classify this variant as pathogenic. This implies that the identified duplication may be the cause of intellectual disability in patients.
ISSN:	2500-3259 2500-0462 2500-3259
DOI:	10.18699/vjgb-25-69