• Je něco špatně v tomto záznamu ?

Case Report: Contiguous Xq22.3 Deletion Associated with ATS-ID Syndrome: From Genotype to Further Delineation of the Phenotype

J. Smetana, V. Vallova, M. Wayhelova, E. Hladilkova, H. Filkova, V. Horinova, P. Broz, A. Mikulasova, R. Gaillyova, P. Kuglík

. 2021 ; 12 (-) : 750110. [pub] 20211029

Jazyk angličtina Země Švýcarsko

Typ dokumentu kazuistiky

Perzistentní odkaz   https://www.medvik.cz/link/bmc22001422

Alport syndrome with intellectual disability (ATS-ID, AMME complex; OMIM #300194) is an X-linked contiguous gene deletion syndrome associated with an Xq22.3 locus mainly characterized by hematuria, renal failure, hearing loss/deafness, neurodevelopmental disorder (NDD), midface retrusion, and elliptocytosis. It is thought that ATS-ID is caused by the loss of function of COL4A5 (ATS) and FACL4 (ACSL4) genes through the interstitial (micro)deletion of chromosomal band Xq22.3. We report detailed phenotypic description and results from genome-wide screening of a Czech family with diagnosis ATS-ID (proband, maternal uncle, and two female carriers). Female carriers showed mild clinical features of microscopic hematuria only, while affected males displayed several novel clinical features associated with ATS-ID. Utilization of whole-exome sequencing discovered the presence of approximately 3 Mb of deletion in the Xq23 area, which affected 19 genes from TSC22D3 to CHRDL1. We compared the clinical phenotype with previously reported three ATS-ID families worldwide and correlated their clinical manifestations with the incidence of genes in both telomeric and centromeric regions of the deleted chromosomal area. In addition to previously described phenotypes associated with aberrations in AMMECR1 and FACL4, we identified two genes, members of tripartite motif family MID2 and subunit of the proteasome PA700/19S complex (PSMD10), respectively, as prime candidate genes responsible for additional clinical features observed in our patients with ATS-ID. Overall, our findings further improve the knowledge about the clinical impact of Xq23 deletions and bring novel information about phenotype/genotype association of this chromosomal aberration.

Citace poskytuje Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc22001422
003      
CZ-PrNML
005      
20220112153605.0
007      
ta
008      
220107s2021 sz f 000 0|eng||
009      
AR
024    7_
$a 10.3389/fgene.2021.750110 $2 doi
035    __
$a (PubMed)34777475
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a sz
100    1_
$a Smetana, Jan $u Department of Genetics and Molecular Biology, Institute of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech
245    10
$a Case Report: Contiguous Xq22.3 Deletion Associated with ATS-ID Syndrome: From Genotype to Further Delineation of the Phenotype / $c J. Smetana, V. Vallova, M. Wayhelova, E. Hladilkova, H. Filkova, V. Horinova, P. Broz, A. Mikulasova, R. Gaillyova, P. Kuglík
520    9_
$a Alport syndrome with intellectual disability (ATS-ID, AMME complex; OMIM #300194) is an X-linked contiguous gene deletion syndrome associated with an Xq22.3 locus mainly characterized by hematuria, renal failure, hearing loss/deafness, neurodevelopmental disorder (NDD), midface retrusion, and elliptocytosis. It is thought that ATS-ID is caused by the loss of function of COL4A5 (ATS) and FACL4 (ACSL4) genes through the interstitial (micro)deletion of chromosomal band Xq22.3. We report detailed phenotypic description and results from genome-wide screening of a Czech family with diagnosis ATS-ID (proband, maternal uncle, and two female carriers). Female carriers showed mild clinical features of microscopic hematuria only, while affected males displayed several novel clinical features associated with ATS-ID. Utilization of whole-exome sequencing discovered the presence of approximately 3 Mb of deletion in the Xq23 area, which affected 19 genes from TSC22D3 to CHRDL1. We compared the clinical phenotype with previously reported three ATS-ID families worldwide and correlated their clinical manifestations with the incidence of genes in both telomeric and centromeric regions of the deleted chromosomal area. In addition to previously described phenotypes associated with aberrations in AMMECR1 and FACL4, we identified two genes, members of tripartite motif family MID2 and subunit of the proteasome PA700/19S complex (PSMD10), respectively, as prime candidate genes responsible for additional clinical features observed in our patients with ATS-ID. Overall, our findings further improve the knowledge about the clinical impact of Xq23 deletions and bring novel information about phenotype/genotype association of this chromosomal aberration.
655    _2
$a kazuistiky $7 D002363
700    1_
$a Vallova, Vladimira $u Department of Genetics and Molecular Biology, Institute of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech $u Department of Medical Genetics and Genomics, University Hospital Brno, Brno, Czech
700    1_
$a Wayhelova, Marketa $u Department of Genetics and Molecular Biology, Institute of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech $u Department of Medical Genetics and Genomics, University Hospital Brno, Brno, Czech
700    1_
$a Hladilkova, Eva $u Department of Medical Genetics and Genomics, University Hospital Brno, Brno, Czech
700    1_
$a Filkova, Hana $u Department of Medical Genetics and Genomics, University Hospital Brno, Brno, Czech
700    1_
$a Horinova, Vera $u Genetic Ambulance and Counseling, Jihlava, Czech
700    1_
$a Broz, Petr $u Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University Prague and Faculty Hospital Motol, Prague, Czech
700    1_
$a Mikulasova, Aneta $u Biosciences Institute, Newcastle University, Newcastle upon Tyne, United Kingdom
700    1_
$a Gaillyova, Renata $u Department of Medical Genetics and Genomics, University Hospital Brno, Brno, Czech
700    1_
$a Kuglík, Petr $u Department of Genetics and Molecular Biology, Institute of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech $u Department of Medical Genetics and Genomics, University Hospital Brno, Brno, Czech
773    0_
$w MED00184539 $t Frontiers in genetics $x 1664-8021 $g Roč. 12, č. - (2021), s. 750110
856    41
$u https://pubmed.ncbi.nlm.nih.gov/34777475 $y Pubmed
910    __
$a ABA008 $b sig $c sign $y - $z 0
990    __
$a 20220107 $b ABA008
991    __
$a 20220112153601 $b ABA008
999    __
$a ind $b bmc $g 1745473 $s 1152569
BAS    __
$a 3
BAS    __
$a PreBMC
BMC    __
$a 2021 $b 12 $c - $d 750110 $e 20211029 $i 1664-8021 $m Frontiers in genetics $n Front Genet $x MED00184539
LZP    __
$a Pubmed-20220107

Najít záznam

Citační ukazatele

Možnosti archivace