IllnessSmith-Lemli-Opitz syndrome
Summary
Curated single gene sequence analysis according to the clinical suspicion Smith-Lemli-Opitz syndrome
- (Extended panel: incl. additional genes)
- EDTA-anticoagulated blood (3-5 ml)
NGS +
Sanger
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
DHCR7 | 1428 | NM_001360.3 | AR |
Informations about the disease
Smith-Lemli-Opitz syndrome is a complex developmental disorder with pronounced facial features, microcephaly, intellectual deficit and behavioral problems/autism as well as malformations of the heart, lungs, kidneys, gastrointestinal tract and genitals. Most patients have syndactyly, but the symptoms can vary considerably. Slightly affected persons show minor physical abnormalities with learning and behavioral problems. Severe cases can be life-threatening with profound intellectual deficits and more severe physical abnormalities. Heredity is autosomal recessive. Intrafamilial variability has been observed, although the severity of symptoms in one subject can be used as a guide to the prognosis for siblings.
(Basic diagnostic gene: DHCR7)
Reference: https://www.ncbi.nlm.nih.gov/books/NBK1143/
- Alias: 7-dehydrocholesterol reductase deficiency (DHCR7)
- Alias: Lethal acrodysgenital syndrome (DHCR7)
- Alias: Rutledge lethal multiple anomaly syndrome
- Alias: SLO (DHCR7)
- Sympt.: Polydactyly, sex reversal, renal hypoplasia, unilobar lung (DHCR7)
- AR
Bioinformatics and clinical interpretation
No text defined