MOEBIUS SYNDROME
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ABSTRACT:
REPOSITORIES: ENA
Similar Datasets
Project description:Illumina human Omni5Exome arrays were used to investigate CNVs in SÑzary syndrome tumours as part of a larger study involving whole exome sequencing of the same samples and targeted resequencing of a further cohort. 16 Samples underwent SNP array including 10 tumour/gDNA matched samples that also underwent whole exome sequencing, public databases were used as further control data for calling CNVs.
2016-07-22 | E-GEOD-80650 | biostudies-arrayexpress
Project description:Illumina human Omni5Exome arrays were used to investigate CNVs in Sѐzary syndrome tumours as part of a larger study involving whole exome sequencing of the same samples and targeted resequencing of a further cohort.
2016-07-22 | GSE80650 | GEO
Project description:CDAGS Syndrome is a rare congenital disorder characterized by Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations. We performed exome sequencing to identify the underlying molecular cause in five patients with CDAGS syndrome from four distinct families. Whole exome sequencing revealed rare variants that disrupt highly conserved nucleotides within the RNU12 gene. RNU12 encodes a small nuclear RNA that is a component of the minor spliceosome and is essential for minor intron splicing. Targeted sequencing confirmed allele segregation within the four families. All five patients in this cohort have a rare variant on one allele that either disrupts the secondary structure or the Sm binding site of the RNU12 snRNA. The variant on the other allele, shared among all five cases, alters a highly conserved nucleotide within the precursor U12 snRNA 3’ extension that is absent in 1440 unrelated healthy controls. All of the variants are either rare or absent from all searched public databases. Whole transcriptome sequencing analysis identified gene dysregulation and specific defects in intron retention in a subset of minor intron splicing. These findings provide evidence of the involvement of RNU12 in craniosynostosis, anal and genitourinary patterning and cutaneous disease.
2021-07-23 | GSE155099 | GEO
Project description:Kabuki syndrome (KS) is a rare multiple congenital anomalies/mental retardation (MCA/MR) syndrome described in 19811,2. In 2010, exome sequencing identified MLL2 mutations in patients with KS3. Since then, 5 studies identified a mutation in MLL2 in 56-75,6% of KS patients3-7. Here, we describe 2 KS and 1 KS-like patient with a de novo partial or complete deletion of UTX, a histone demethylase interacting with MLL2 in gene regulation. UTX locates on the X chromosome and we showed that the X chromosome with the deleted copy of UTX is preferentially inactivated despite the fact that UTX escapes X-inactivation. This study unveiled deletion of UTX as a second cause of KS and highlights the growing role of histone methylase/demethylase in MCA/MR syndrome.
2012-01-01 | GSE32567 | GEO
Project description:Phosphoprotein phosphatases are the most abundant in the cell and regulate various cellular functions, such as cell survival, DNA damage response, tau dephosphorylation, and apoptosis. Some phosphoprotein phosphatase dysfunctions promote neurodevelopmental disorders. Exome or genome sequencing identified individuals with Marfan syndrome-like connective tissue disorders, mild neurodevelopmental disorders, and attention deficit in 11 individuals from 10 families due to a de novo in-frame deletion (NM_005436.5:c.415_417del p.Glu139del) in the CCDC6 gene. Zebrafish model analysis revealed loss of sociability and abnormal shapes in the skull, vertebra, and ribs. Proteome analyses using patient-derived lymphoblastoid cell line or mutant or wild-type CCDC6 overexpression in HeLa cells showed mutant CCDC6 strongly binds to phosphoprotein phosphatase and its regulators, causing phosphorylation regulation disorders. Interestingly, these patients showed partially overlapped findings of reported PP2A-related disorders. We demonstrate a new disorder, CLAMP syndrome, Craniofacial dysmorphisms, Language delay, Autistic features, Marfan syndrome-like findings, and Phosphoprotein phosphatase dysfunction.
2026-05-28 | PXD064351 | JPOST Repository
Project description:Phosphoprotein phosphatases are the most abundant in the cell and regulate various cellular functions, such as cell survival, DNA damage response, tau dephosphorylation, and apoptosis. Some phosphoprotein phosphatase dysfunctions promote neurodevelopmental disorders. Exome or genome sequencing identified individuals with Marfan syndrome-like connective tissue disorders, mild neurodevelopmental disorders, and attention deficit in 11 individuals from 10 families due to a de novo in-frame deletion (NM_005436.5:c.415_417del p.Glu139del) in the CCDC6 gene. Zebrafish model analysis revealed loss of sociability and abnormal shapes in the skull, vertebra, and ribs. Proteome analyses using patient-derived lymphoblastoid cell line or mutant or wild-type CCDC6 overexpression in HeLa cells showed mutant CCDC6 strongly binds to phosphoprotein phosphatase and its regulators, causing phosphorylation regulation disorders. Interestingly, these patients showed partially overlapped findings of reported PP2A-related disorders. We demonstrate a new disorder, CLAMP syndrome, Craniofacial dysmorphisms, Language delay, Autistic features, Marfan syndrome-like findings, and Phosphoprotein phosphatase dysfunction.
2026-05-28 | PXD064339 | JPOST Repository
Project description:CIDR_NINDS Whole Exome Sequencing in Joubert Syndrome
| PRJNA75905 | ENA
Project description:A new mouse mutant was identified at the Munich ENU mutagenesis project due to hyperactivity, head tossing, and circling behaviour. Neurological and gross morphological phenotyping of these mutant mice revealed impairment of the vestibular system. Using whole genome exome sequencing and a custom-made variant calling pipeline, we identified the causative mutation as an A->T substitution on the chromosome 2 at the position 128 in the exon 6 of jagged 1 (Jag1) gene. This introduces a premature termination codon at the position 883 of the cDNA. In humans, mutations in the JAG1 gene are associated with Alagille syndrome (ALGS1 ), a multisystem developmental disorder mainly affecting small bile ducts in the liver, but also heart, skeleton, and eyes, and occasionally also kidney or inner ears. Further examination of the Jag1K295*/+ mutant mouse line disclosed multiorgan deficiencies, such as cardiac liver congestion, bile duct hypoplasia, mild nephropathy, subvalvular hypertrophy of the right ventricle, and mild growth retardation. No skeletal abnormalities could be detected. In summary, we report a novel mouse model for Alagille syndrome, Jag1K295*/+, which resembles most of the features of the mild form of Alagille syndrome observed in patients. Total RNA obtained from liver of 4 male heterozygous Jag1K295*/+ and 4 male wildtype mice
2014-10-01 | E-GEOD-55602 | biostudies-arrayexpress
Project description:Whole exome sequencing identified novel mutations of CHARGE syndrome
| PRJEB36537 | ENA
Project description:Kabuki syndrome (KS) is a rare multiple congenital anomalies/mental retardation (MCA/MR) syndrome described in 19811,2. In 2010, exome sequencing identified MLL2 mutations in patients with KS3. Since then, 5 studies identified a mutation in MLL2 in 56-75,6% of KS patients3-7. Here, we describe 2 KS and 1 KS-like patient with a de novo partial or complete deletion of UTX, a histone demethylase interacting with MLL2 in gene regulation. UTX locates on the X chromosome and we showed that the X chromosome with the deleted copy of UTX is preferentially inactivated despite the fact that UTX escapes X-inactivation. This study unveiled deletion of UTX as a second cause of KS and highlights the growing role of histone methylase/demethylase in MCA/MR syndrome. Two patients were analysed by Agilent array CGH 244K (AMADID: 014693) Three patients DNA were analyzed by CGH on custom targeted array 44K (AMADID: 032482). Two of them were initially analyzed using 244K Whole genome Arrays (AMADID: 014693). One third patient was selected given suspicion of deletion in one of the targeted gene (KDM6A) as amplification of some exons performed in our lab to sequence this gene failed.
2012-01-01 | E-GEOD-32567 | biostudies-arrayexpress