Autozomálně recesivní
Caused by changes in both copies of RNU4ATAC, a small gene that does not make a protein but an RNA needed to process a minor class of gene transcripts (minor intron splicing).
Příznaky a projevy
The severe form (MOPD1, or Taybi-Linder syndrome) causes marked growth restriction, a very small head, brain malformations, skeletal changes and seizures, and can be fatal. Roifman syndrome combines growth restriction, skeletal changes, antibody deficiency, retinal changes and learning difficulties. Lowry-Wood syndrome is milder, with short stature, skeletal changes and small head size.
Co se diagnózou změní
Care depends on the form and includes growth, skeletal, neurological, eye and immune assessment; people with antibody deficiency may benefit from immunoglobulin replacement. Genetic counselling is recommended, and carrier testing is available for relatives.
Analyzované geny
Známé také jako
RNU4atac-opathy; RNU4ATAC-related disorder
Zahrnuje 3 příbuzných podtypů ↓Skrýt podtypy ↑
- Lowry-Wood syndrome
- microcephalic osteodysplastic primordial dwarfism type I
- Roifman syndrome
