- Jul 2024
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drive.google.com drive.google.com
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Case: patient #5, male, German Disease Assertion: UCD/OTCD
Family Info: Family history of the disease, Variant found in mother of the patient
Case Presenting HPOs: infantile onset (HP:0003593), oritic aciduria(HP:0003218), hyperammonemia(HP:0001987), hyperglutaminemia(HP:0003217), low plasma citrulline (HP:0003572)
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: Liver tissues were used to extract RNA that was later used to synthesize cDNA. The products were compared to healthy controls in order to detect variants. gDNA, in order to determine the size of deletions in patient 3 and 4 , a set of intronic primers presumably flanking the deletions was used and specific primers allowed sequencing of exactly those critical regions(sequencing on paper). To estimate the relevance of the identified intronic variants in terms of their capability to induce splicing, we used a score developed by Shapiro and Senapathy. This splice score offers information about the usage of a certain splice site
Supplemental Data: TABLE 1, Notes: died at 11 months, was given medication and low protein diet and was asymptomatic during that time. Died from sever cerebral edema.
Variant: NM_000531.6: c.1005+1091C>G
ClinVarID: N/A
CAID: CA2695233334
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: patient #1, male, turkish
Disease Assertion: UCD/OTCD
Family Info: Family history of the disease, Variant found in mother of the patient
Case Presenting HPOs: infantile onset (HP:0003593), coma(HP:0001259), episodic hyperammonemia(HP:0001951), oriticaciduria(HP:0003218)
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: Liver tissues were used to extract RNA that was later used to synthesize cDNA. The products were compared to healthy controls in order to detect variants. gDNA, in order to determine the size of deletions in patient 3 and 4 , a set of intronic primers presumably flanking the deletions was used and specific primers allowed sequencing of exactly those critical regions(sequencing on paper). To estimate the relevance of the identified intronic variants in terms of their capability to induce splicing, we used a score developed by Shapiro and Senapathy. This splice score offers information about the usage of a certain splice site
Supplemental Data: TABLE 1, Notes: very mild movement disorder, the diagnosis was prenatal so measures were taken from birth,. 2 biopsies were performed and the revealed respectively a 30% and 50 % decrease on OTC activity.
Variant: NM_000531.6: c.867+1126A>G
ClinVarID: 571311
CAID: CA891843643
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: patient #2, male, Saudi Arabian
Disease Assertion: UCD/OTCD
Family Info: Family history of the disease, Variant found in mother of the patient, Brother died of hyperammonemic crisis
Case Presenting HPOs: intellectual disability (HP:0001249), Neonatal onset (HP:0003623), seizure(HP:0001250), episodic hyperammonemia(HP:0001951), intellectual disability (HP:0001249)
Case HPO FreeText: hyperammonemic encephalopathy
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: Liver tissues were used to extract RNA that was later used to synthesize cDNA. The products were compared to healthy controls in order to detect variants. gDNA, in order to determine the size of deletions in patient 3 and 4 , a set of intronic primers presumably flanking the deletions was used and specific primers allowed sequencing of exactly those critical regions(sequencing on paper). To estimate the relevance of the identified intronic variants in terms of their capability to induce splicing, we used a score developed by Shapiro and Senapathy. This splice score offers information about the usage of a certain splice site
Supplemental Data: TABLE 1, Patient was severely mentally retarded after the age of 2. Low OTC activity
Variant: NM_000531.6: c.540+265G>A(p.Gln180_Glu181insX4)
ClinVarID: 449382
CAID: CA658658977
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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