Schaaf et al: patient with dermosterolsis with relative macrocephaly, mild arthrogryposis, and dysmorphic facial features. The diagnosis of desmosterolosis was established by detection of significant elevation of plasma desmosterol levels and reduced enzyme activity of DHCR24 upon expression of the patient's DHCR24 cDNA. The patient was found to be a compound heterozygote for c.281G>A (p.R94H) and c.1438G>A (p.E480K) mutations. 4 individuals in Bedouin kindred with dermosterolsis and distal contractures. Two other reports 12457401; 29175559 in association with milder phenotype of AMC.
Created: 27 Nov 2019, 1:51 p.m. | Last Modified: 27 Nov 2019, 1:52 p.m.
Panel Version: 2.84
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Added to Arthrogryposis panel as suggested by Zerin Hyder (Genomics England Clinical Team).
Created: 26 Nov 2019, 3:16 p.m. | Last Modified: 26 Nov 2019, 3:16 p.m.
Panel Version: 2.64
Phenotypes for gene: DHCR24 were changed from dermosterolsis to Dermosterolsis, 602398
gene: DHCR24 was added gene: DHCR24 was added to Arthrogryposis. Sources: Literature,Expert Review Green Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHCR24 were set to 21559050; 21671375; 12457401; 29175559 Phenotypes for gene: DHCR24 were set to dermosterolsis