Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype

European Journal of Medical Genetics

Volumn 56, Issue 5, 2013, Pages 266-269

  Auer Grumbach, Michaela ^a,b   Bode, Heiko ^c,d   Pieber, Thomas R ^a   Schabhüttl, Maria ^a   Fischer, Dirk ^e,f   Seidl, Rainer ^g   Graf, Elisabeth ^h   Wieland, Thomas ^h   Schuh, Reinhard ^b   Vacariu, Gerda ⁱ   Grill, Franz ⁱ   Timmerman, Vincent ^j   Strom, Tim M ^h,k   Hornemann, Thorsten ^c,d  

^a MEDICAL UNIVERSITY OF GRAZ   (Austria)

^b MEDICAL UNIVERSITY OF VIENNA   (Austria)

^c UNIVERSITY OF ZURICH   (Switzerland)

^d UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^e UNIVERSITY HOSPITAL BASEL   (Switzerland)

^f UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^g UNIV KLIN KINDER JUGENDHEILKUNDE   (Austria)

^h INSTITUTE OF EPIDEMIOLOGY   (Germany)

ⁱ Orthopedic Hospital Speising   (Austria)

^j UNIVERSITY OF ANTWERP   (Belgium)

^k TECHNICAL UNIVERSITY OF MUNICH   (Germany)

more..

Author keywords

Cataract; Hereditary neuropathy; HSAN; HSN; SPTLC1

Indexed keywords

SPHINGOLIPID;

ARTICLE; CASE REPORT; CATARACT; CHILD; FEMALE; GENE; GENE MUTATION; GENETIC ASSOCIATION; GROWTH RETARDATION; HUMAN; JOINT LAXITY; MUSCLE ATROPHY; MUSCLE HYPOTONIA; PHENOTYPE; PRESCHOOL CHILD; SCHOOL CHILD; SERINE PALMITOYLTRANSFERASE SUBUNIT 1 GENE;

CHILD, PRESCHOOL; EXONS; FEMALE; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HUMANS; MUTATION; PHENOTYPE; SERINE; SERINE C-PALMITOYLTRANSFERASE; SPHINGOLIPIDS;

EID: 84878651065     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2013.02.002     Document Type: Article

References (13)

1. Rotthier A., Baets J., Timmerman V., Janssens K. Mechanisms of disease in heriditary sensory and autonomic neuropathies. Nat. Rev. Neurol. 2012, 8(2):73-85.
2. Auer-Grumbach M., De Jonghe P., Verhoeven K., Timmerman V., Wagner K., Hartung H.P., Nicholson G.A. Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations. Arch. Neurol. 2003, 60(3):329-334.
3. Dyck P.J. Neuronal Atrophy and Degeneration Predominantly Affecting Peripheral Sensory and Autonomic Neurons 1993, 1065-1093. Peripheral Neuropathy, WB Saunders Company. third ed.
4. Dawkins J.L., Hulme D.J., Brahmbhatt S.B., Auer-Grumbach M., Nicholson G.A. Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain subunit-1 cause hereditary sensory neuropathy type I. Nat. Genet. 2001, 27(3):309-312.
5. Rotthier A., Baets J., De Vriendt E., Jacobs A., Auer-Grumbach M., Lévy N., Bonello-Palot N., Kilic S.S., Weis J., Nascimento A., Swinkels M., Kruyt M.C., Jordanova A., De Jonghe P., Timmerman V. Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. Brain 2009, 132:2699-2711.
6. Bertea M., Rütti M.F., Othman A., Marti-Jaun J., Hersberger M., von Eckardstein A., Hornemann T. Deoxysphingoid bases as plasma markers in diabetes mellitus. Lipids Health Dis. 2010, 9:84.
7. Othman A., Rütti M.F., Ernst D., Saely C.H., Rein P., Drexel H., Porretta-Serapiglia C., Lauria G., Bianchi R., von Eckardstein A., Hornemann T. Plasma deoxysphingolipids: a novel class of biomarkers for the metabolic syndrome?. Diabetologia 2012, 55(2):421-431.
8. Wang-Sattler R., Yu Z., Herder C., Messias A.C., Floegel A., He Y., Heim K., Campillos M., Holzapfel C., Thorand B., Grallert H., Xu T., Bader E., Huth C., Mittelstrass K., Döring A., Meisinger C., Gieger C., Prehn C., Roemisch-Margl W., Carstensen M., Xie L., Yamanaka-Okumura H., Xing G., Ceglarek U., Thiery J., Giani G., Lickert H., Lin X., Li Y., Boeing H., Joost H.G., de Angelis M.H., Rathmann W., Suhre K., Prokisch H., Peters A., Meitinger T., Roden M., Wichmann H.E., Pischon T., Adamski J., Illig T. Novel biomarkers for pre-diabetes identified by metabolomics. Mol. Syst. Biol. 2012, 8:615.
9. Garofalo K., Penno A., Schmidt B.P., Lee H.J., Frosch M.P., von Eckardstein A., Brown R.H., Hornemann T., Eichler F.S. Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1. J.Clin. Invest. 2011, 121(12):4735-4745.
10. Beetz C., Pieber T.R., Hertel N., Schabhüttl M., Fischer C., Trajanoski S., Graf E., Keiner S., Kurth I., Wieland T., Varga R.E., Timmerman V., Reilly M.M., Strom T.M., Auer-Grumbach M. Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. Am. J. Hum. Genet. 2012, 91(1):139-145.
11. Penno A., Reilly M.M., Houlden H., Laurá M., Rentsch K., Niederkofler V., Stoeckli E.T., Nicholson G., Eichler F., Brown R.H., von Eckardstein A., Hornemann T. Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids. J.Biol. Chem. 2010, 285(15):11178-11187.
12. Rotthier A., Penno A., Rautenstrauß B., Auer-Grumbach M., Stettner G.M., Asselbergh B., Van Hoof K., Sticht H., Lévy N., Timmerman V., Hornemann T., Janssens K. Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I. Hum. Mutat. 2011, 32(6):E2211-E2225.
13. Huehne K., Zweier C., Raab K., Odent S., Bonnaure-Mallet M., Sixou J.L., Landrieu P., Goizet C., Sarlangue J., Baumann M., Eggermann T., Rauch A., Ruppert S., Stettner G.M., Rautenstrauss B. Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type I gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis. Neuromuscul. Disord. 2008, 18(2):159-166.