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| Aortopathy_Connective Tissue Disorders v0.116 | ALDH18A1 | Zornitza Stark Marked gene: ALDH18A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.116 | ALDH18A1 | Zornitza Stark Gene: aldh18a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.116 | ALDH18A1 | Zornitza Stark Classified gene: ALDH18A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.116 | ALDH18A1 | Zornitza Stark Gene: aldh18a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.96 | ALDH18A1 |
Ain Roesley gene: ALDH18A1 was added gene: ALDH18A1 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: ALDH18A1 were set to PMID: 30071989; 26320891; 24913064; 18478038; 21739576; 22411858; 28228640 Phenotypes for gene: ALDH18A1 were set to Cutis laxa, autosomal dominant 3 (MIM# 616603); Cutis laxa, autosomal recessive, type IIIA (MIM# 219150) Review for gene: ALDH18A1 was set to GREEN Added comment: PMID: 30071989; not a HTAAD gene by clingen working group Cutis laxa, autosomal dominant 3 (MIM# 616603) PMID: 28228640; - Born to consanguineous parents and harbour a de novo missense p.(Arg126His). no functional done PMID: 26320891; - 8 unrelated individuals born to non-consanguineous families clinically diagnosed with de-barsy syndrome (DBS) or wrinkly skin syndrome. All variants occur at codon Arg138 and parental DNA from 6 probands confirmed de novo origin. (NOTE: table 1 states paternal origin however this is referring to the allele not variant (Figure S1)). - Imaging of patients's cells showed increased accumulation of mutant protein at the mitochondrial outer membrane. - Biochemical studies using patients' fibroblasts demonstrated LoF Cutis laxa, autosomal recessive, type IIIA (MIM# 219150) PMID: 24913064; - 2 patients from consanguineous families, 1x fs (c.2131del)+ 1x 1522bp del (resulting in exon 15 del) - clinical features like facial dysmorphism, hypotonia, adducted thumbs and cutis laxa, which are frequently found in progeroid cutis laxa syndromes. In addition, they had cardiovascular abnormalities PMID: 18478038; - missense c.2350C>T; p.(His784Tyr) found in a a consanguineous New Zealand Maori family with 4 affecteds. - patients' fibroblasts showed no defect in Proline accumulation PMID: 21739576; This severely affected child, born to consanguineous parents of Pakistani origin, presented with lax, wrinkled and thin skin with dilated and tortuous subcutaneous blood vessels, corneal clouding, and hypotonia. The child had severe global developmental delay and feeding difficulties and died in infancy for an unknown reason. The proband was homozygous for a mutation in ALDH18A1 , c.1923 + 1G > A PMID: 22411858; pair of siblings chet for p.(Ser742Ile) and p.(Arg425Cys) Sources: Literature |
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