A de novo duplication in 17p11.2 and a Novel mutation in the P(o) gene in two Dejerine-Sottas syndrome patients

Human Mutation

Volumn 8, Issue 4, 1996, Pages 304-310

  Silander, Kaisa ^a   Meretoja, Päivi ^b   Nelis, Eva ^c   Timmerman, Vincent ^c   Van Broeckhoven, Christine ^c   Aula, Pertti ^a   Savontaus, Marja Liisa ^a  

^a UNIVERSITY OF TURKU   (Finland)

^b TURKU UNIVERSITY HOSPITAL   (Finland)

^c UNIVERSITY OF ANTWERP   (Belgium)

Author keywords

CMT1; CMT1A duplication; DSS; HMSN; Myelin protein zero; PMP22

Indexed keywords

MYELIN PROTEIN;

ALLELE; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; GENE DUPLICATION; GENE MUTATION; GENE SEQUENCE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MOTOR NEUROPATHY; PRIORITY JOURNAL; SENSORY NEUROPATHY; SEQUENCE ANALYSIS;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHARCOT-MARIE-TOOTH DISEASE; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 17; DINUCLEOTIDE REPEATS; EXONS; FEMALE; GENES, DOMINANT; GENETIC MARKERS; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HUMANS; MALE; MULTIGENE FAMILY; MYELIN P0 PROTEIN; PATERNITY; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0029826045     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)8:4<304::AID-HUMU2>3.0.CO;2-7     Document Type: Article

References (33)

1. Chance PF, Alderson MK, Leppig KA, Lensch MW, Matsunami N, Smith B, Swanson PD, Odelberg SJ, Disteche CM, Bird TD (1993) DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72:143-151.
2. Chance PF, Abbas N, Lensch MW, Pentao L, Roa BB, Patel PI, Lupski JR (1994) Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet 3:223-228.
3. Dyck PJ, Chance P, Lebo R, Carney JA (1993) Hereditary motor and sensory neuropathies. In Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF (eds): Peripheral Neuropathy. Philadelphia: WB Saunders, pp 1094-1136.
4. o protein as a homophilic adhesion molecule. Nature 344:871-872.
5. Hayasaka K, Himoro M, Wang Y, Takata M, Minoshima S, Shimiru N, Miura M, Uyemura K, Takada G ( 1993a) Structure and chromosomal localization of the gene encoding the human myelin protein zero (MPZ). Genomics 17:755-758.
6. Hayasaka K, Himoro M, Sato W, Takada G, Uyemura K, Shimizu N, Bird TD, Conneally PM, Chance PF (1993b) Charcot-Marie-Tooth neuropathy type IB is associated with mutations of the PO gene. Nature Genet 5:31-34.
7. o gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). Nature Genet 5:266-268.
8. o gene in a pedigree of Charcot-Marie-Tooth neuropathy 1. Biochem Mol Biol Int 31:169-173.
9. Hoogendijk JE, Hensels GW, Gabreëls-Festen AAWM, Gabreëls FJM, Janssen EAM, De Jonghe P, Martin J-J, Van Broeckhoven C, Valentijn LJ, Baas F, de Visser M, Bolhuis PA (1992) De-novo mutation in hereditary motor and sensory neuropathy type 1. Lancet 339:1081-1082.
10. Ionasescu W (1995) Charcot-Marie-Tooth neuropathies: From clinical description to molecular genetics. Muscle Nerve 18:267-275.
11. o gene in Charcot-Marie-Tooth disease type IB. Nature Genet 5:35-39.
12. Lemke G, Axel R (1985) Isolation and sequence of a cDNA encoding the major structural protein of peripheral myelin. Cell 40:501-508.
13. Lemke G, Lamar E, Patterson J (1988) Isolation and analysis of the gene encoding peripheral myelin protein zero. Neuron 1:73-78.
14. Lupski JR, Montes de Oca-Luna R, Slaugenhaupt S, Pentao L, Guizetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, Chakravarti A, Patel PI (1991) DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66:219-232.
15. Mancardi GL, Uccelli A, Bellone E, Sghirlanzoni A, Mandich P, Pareyson D, Schenone A, Abbruzzese A, Ajmar F (1994) 17p11.2 duplication is a common finding in sporadic cases of Charcot-Marie-Tooth type 1. Eur Neurol 34:135-139.
16. Matsunami N, Smith B, Ballard L, Lensch MW, Robertson M, Albertsen H, Hanemann CO, Müller HW, Bird TD, White R, Chance PF (1992) Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nature Genet 1:176-179.
17. o gene. Hum Genet 94:653-657.
18. Nelis E, Van Broeckhove C, et al (1996): Estimation of the mutation frequencies in CMT1 and HNPP: A European collaborative study. Eur J Hum Genet 4:25-33.
19. Ouvrier RA, Mcleod JG, Conchin TE (1987) The hypertrophic forms of hereditary motor and sensory neuropathy. A study of hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood. Brain 110:121-148.
20. Palau F, Löfgren A, De Jonghe P, Bort S, Nelis E, Sevilla T, Martin J-J, Vilchez J, Prieto F, Van Broeckhoven C (1993) Origin of de novo duplication in Charcot-Marie-Tooth disease type 1A: Unequal nonsister chromatid exchange during spermatogenesis. Hum Mol Genet 2:2031-2035.
21. Patel PI, Roa BB, Welcher AA, Schoener-Scott R, Trask BJ, Pentao L, Snipes GJ, Garcia CA, Francke U, Shooter EM, Lupski JR, Suter U (1992) The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nature Genet 1:159-165.
22. Pentao L, Wise CA, Chinault AC, Patel PI, Lupski JR (1992) Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nature Genet 2:292-300.
23. Raeymaekers P, Timmerman V, Nelis E, De Jonghe P, Hoogendijk JE, Baas F, Barker DF, Martin JJ, De Visser M, Bolhuis PA, Van Broeckhoven C (1991) Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). Neuromusc Dis 1:93-97.
24. Raeymaekers P, Timmerman V, Nelis E, Van Hui W, De Jonghe P, Martin J-J, Van Broeckhoven C (1992) Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). J Med Genet 29:5-11.
25. o in a patient with a Déjérine-Sottas syndrome (DSS) phenotype. Hum Mol Genet 3:1701-1702.
26. Roa BB, Dyck PJ, Marks HG, Chance PF, Lupski JR (1993a) Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nature Genet 5:269-273.
27. Roa BB, Garcia CA, Suter U, Kulpa DA, Wise CA, Mueller J, Welcher AA, Snipes GJ, Shooter EM, Patel PI, Lupski JR (1993b) Charcot-Marie-Tooth disease type 1A: Association with a spontaneous point mutation in the PMP22 gene. N Engl J Med 329:96-101.
28. Timmerman V, Nelis E, Van Hul W, Nieuwenhuijsen BW, Chen KL, Wang S, Ben Othman K, Cullen B, Leach RJ, Hanemann CO, De Jonghe P, Raeymaekers P, van Ommen G-JB, Martin J-J, Müller HW, Vance JM, Fischbeck KH, Van Broeckhoven C (1992) The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nature Genet 1:171-175.
29. Valentijn LJ, Bolhuis PA, Zorn I, Hoogendijk JE, van den Bosch N, Hensels GW, Stanton Jr VP, Housman DE, Fischbeck KH, Ross DA, Nicholson GA, Meershoek EJ, Dauwerse HG, van Ommen G-JB, Baas F (1992a) The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nature Genet 1:166-170.
30. Valentijn LJ, Baas F, Wolterman RA, Hoogendijk JE, van den Bosch NHA, Zorn I, Gabreëls-Festen AAWM, de Visser M, Bolhuis PA (1992b) Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Nature Genet 2:288-291.
31. Valentijn LJ, Ouvrier RA, van den Bosch NHA, Bolhuis PA, Baas F, Nicholson GA (1995) Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation. Hum Mutat 5:76-80.
32. o-glycoprotein: Predicted structure and interactions of extra-cellular domain. J Neurochem 61:1987-1995.
33. Wright EC, Goldgar DE, Fain PR, Barker DF, Skolnick MH (1990) A genetic map of human chromosome 17p. Genomics 7:103-109.