A duplication of the whole KIAA2022 gene validates the gene role in the pathogenesis of intellectual disability and autism
PBN-AR
Instytucja
Instytut Matki i Dziecka
Informacje podstawowe
Główny język publikacji
en
Czasopismo
Clinical Genetics
ISSN
0009-9163
EISSN
1399-0004
Wydawca
WILEY-BLACKWELL
DOI
URL
Rok publikacji
2015
Numer zeszytu
3
Strony od-do
297-299
Numer tomu
88
Identyfikator DOI
Liczba arkuszy
Słowa kluczowe
en
autistic disorder diagnosis
autistic disorder genetic
gene duplication
gene expression
X-linked genes
intellectual disability
autism
X-linked intellectual disability
KIAA2022 gene
Streszczenia
Język
en
Treść
X-linked intellectual disability (XLID) accounts for ∼10% of intellectually disabled males, and much attention has been focused on the genetics of XLID over a few last decades (1). Mutations causing monogenic XLID have been reported in over 100 genes; however, the role of several of the genes in XLID pathogenesis has been recently questioned. KIAA2022 has been considered as one of the genes for which replication studies are needed (2). So far, only a few mutations in the gene have been reported (3–5). In this study, we show that a novel duplication of the whole KIAA2022 gene is causative for intellectual disability and autism in a Polish XLID family. We also demonstrate by functional studies that this whole gene duplication leads to the inhibition of the KIAA2022 expression in the patients. To this study, we included a cohort of 134 Polish XLID patients. All DNA samples were obtained with participants’ written informed consent. The patients had Fragile X syndrome excluded, as well as rearrangements of MRX genes covered by the SALSA MLPA MRX probemix set. Then, they were classified to aCGH examination (array Comparative Genomic Hybridization). In this study, we report on a XLID family (Fig. 1a), in which five affected males over two generations were identified. Obligatory female carriers were unaffected.
Cechy publikacji
LETTER
Inne
System-identifier
587947
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