Global InformationHydrolethalus syndrome information
| Hydrolethalus syndrome | |
|---|---|
| Other names | Salonen-Herva-Norio syndrome |
 | |
| Hydrolethalus syndrome is inherited in an autosomal recessive manner | |
| Specialty | Medical genetics  |
Hydrolethalus syndrome (HLS) is a rare genetic disorder that causes improper fetal development, resulting in birth defects and, most commonly, stillbirth.[1]
HLS is associated with HYLS1 mutations. The gene encoding HYLS1 is responsible for proper cilial development within the human body. Cilia are microscopic projections that allow sensory input and signalling output within cells, as well as cell motility.[2] Dysfunction results in a range of abnormalities that are often the result of improper cell signalling.[3] A variant form, HLS2, with additional mutations to the KIF7 gene, is less common.[4] KIF7 also ensures correct cilia formation and function, specifically cilia stability and length.[5]
Hydrolethalus syndrome (HLS) was first mistakenly identified in Finland, during a study on Meckel syndrome.[6] Like HLS, Meckel syndrome presents with severe physiological abnormalities, namely disruptions to the central nervous system and the presence of extra fingers or toes (polydactyly).[6] HLS can be distinguished from Meckel syndrome by analysing kidney function, which is dysfunctional in Meckel syndrome as a result of cyst formation.[7]
- ^ E-Notes: Hydrolethalus Syndrome
- ^ Oka M, Shimojima K, Yamamoto T, Hanaoka Y, Sato S, Yasuhara T, Yoshinaga H, Kobayashi K (June 2016). "A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome". Clinical Genetics. 89 (6): 739–43. doi:10.1111/cge.12752. PMID 26830932.
- ^ Waters A, Beales P (July 2011). "Ciliopathies: an expanding disease spectrum". Pediatric Nephrology. 26 (7): 1039–56. doi:10.1007/s00467-010-1731-7. PMC 3098370. PMID 21210154.
- ^ Putoux A, Thomas S, Coene K, Davis E, Alanay Y, Ogur G, Uz E, Buzas D, Gomes C, Patrier S, Bennett C, Elkhartoufi N, Frison M, Rigonnot L, Joyé N, Pruvost S, Utine G, Boduroglu K, Nitschke P, Fertitta L, Thauvin-Robinet C, Munnich A, Cormier-Daire V, Hennekam R, Colin E, Akarsu N, Bole-Feysot C, Cagnard N, Schmitt A, Goudin N, Lyonnet S, Encha-Razavi F, Siffroi J, Winey M, Katsanis N, Gonzales M, Vekemans M, Beales P, Attié-Bitach T (June 2011). "KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes". Nature Genetics. 43 (6): 601–6. doi:10.1038/ng.826. PMC 3674836. PMID 21552264.
- ^ Takao D, Verhey K (January 2016). "Gated entry into the ciliary compartment". Cellular and Molecular Life Sciences. 73 (1): 119–27. doi:10.1007/s00018-015-2058-0. PMC 4959937. PMID 26472341.
- ^ a b Salonen R, Herva R (December 1990). "Hydrolethalus syndrome". Journal of Medical Genetics. 27 (12): 756–59. doi:10.1136/jmg.27.12.756. PMC 1017280. PMID 2074561.
- ^ Honkala H (March 2009). "The molecular basis of hydrolethalus syndrome". ResearchGate: 756–59.