GM3 synthase deficiency
| Disorder | |
|---|---|
| OMIM #: | #609056 (Click to access OMIM database) |
| Disorder: | GM3 synthase deficiency |
| Also known as: | AMISH INFANTILE EPILEPSY SYNDROME EPILEPSY SYNDROME, INFANTILE-ONSET SYMPTOMATIC SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME |
| Clinical | |
| Phenotype: | generalized clonic-tonic seizures, hypotonia, cerebral atrophy, myoclonus, developmental delay, developmental regression, motor delay, blindness, optic atrophy, hyperpigmented skin (macules), irritability, feeding difficulties, failure to thrive, vomiting, |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | ST3GAL5 |
| Base Change: | C>T, at nucleotide 862 |
| Amino Acid Change: | arg 288 --> term |
| Last updated: | 2022-12-08 |
| References |
|---|
| Aoki K, Heaps AD, Strauss KA, Tiemeyer M. (2019) Mass spectrometric quantification of plasma glycosphingolipids in human GM3 ganglioside deficiency. Clin Mass Spectrom Mar 16;14 Pt B:106-114. PubMed ID: 34917767 |
| Bowser LE, Young M, Wenger OK, Ammous Z, Brigatti KW, Carson VJ, Moser T, Deline J, Aoki K, Morlet T, Scott EM, Puffenberger EG, Robinson DL, Hendrickson C, Salvin J, Gottlieb S, Heaps AD, Tiemeyer M, Strauss KA. (2019) Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier. Mol Genet Metab Apr;126(4):475-488. PubMed ID: 30691927 |
| Farukhi F, Dakkouri C, Wang H, Wiztnitzer M, Traboulsi EI. (2006) Etiology of vision loss in ganglioside GM3 synthase deficiency. Ophthalmic Genet Sep;27(3):89-91. PubMed ID: 17050284 |
| Simpson MA, Cross H, Proukakis C, Priestman DA, Neville DC, Reinkensmeier G, Wang H, Wiznitzer M, Gurtz K, Verganelaki A, Pryde A, Patton MA, Dwek RA, Butters TD, Platt FM, and Crosby AH. (2004) Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase. Nat Genet 36(11): 1225-1229. PubMed ID: 15502825 |
| Strauss KA, Gonzaga-Jauregui C, Brigatti KW, Williams KB, King AK, Van Hout C, Robinson DL, Young M, Praveen K, Heaps AD, Kuebler M, Baras A, Reid JG, Overton JD, Dewey FE, Jinks RN, Finnegan I, Mellis SJ, Shuldiner AR, Puffenberger EG. (2018) Genomic diagnostics within a medically underserved population: efficacy and implications. Genet Med Jan;20(1):31-41. PubMed ID: 28726809 |
| Wang AS, Kilbane C. (2022) Dystonia Due to GM3 Synthase Deficiency. Mov Disord Clin Pract Jan 5;9(2):236-239. PubMed ID: 35146061 |
| Wang H, Bright A, Xin B, Bockoven JR, Paller AS. (2013) Cutaneous dyspigmentation in patients with ganglioside GM3 synthase deficiency. Am J Med Genet A Apr;161A(4):875-9. PubMed ID: 23436467 |
| Yoshikawa M, Go S, Suzuki SI, Suzuki A, Katori Y, Morlet T, Gottlieb SM, Fujiwara M, Iwasaki K, Strauss KA, Inokuchi JI. (2015) Ganglioside GM3 is essential for the structural integrity and function of cochlear hair cells. Hum Mol Genet May 15;24(10):2796-807. PubMed ID: 25652401 |
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