Gene: [07q1123/ELN] elastin (tropoelastin); supravalvular aortic stenosis (SVAS); Williams-Beuren syndrome (WS; WBS; MIM:194050); hypercalcemia, infantile (with elfin facies); [SVAS WS WBS ]
HIS | The gene ELN was previously (Emanuel-1985; Palotie-1989) thought to be located in Chr 2q3. Fazio-1991 mapped ELN to the long arm of Chr 7, in subsegment q11.2. The method used was in situ hybridization with two different probes, on the panels of interspecies hybrid cells and PCR. Curran-1993 showed that the ELN gene was disrupted in a translocation with a breakpoint at 7q11.23." |
PAT | The Williams-Beuren syndrome is a contiguous gene
syndrome. [1] Ewart-1993 showed close linkage of ELN and supravalvular aortic stenosis in 2 families. They found that deletion involving 7q11.23 and resulting in hemizygosity of the elastin gene is responsible for the Williams-Beuren syndrome and suggested that the deletion extends beyond the ELN locus, spanning at least 114 kb. [2] In 40 of the 44 patients Nickerson-1995 demonstrated deletion of the ELN gene (see also Lowery-1995, Mari-1995, Brewer-1996, Perez-Jurado-1996). [3] Peoples-1996 reported that the GEM:07q1123/RFC2 (replication factor C, subunit 2, 40kD) gene is deleted in 18 of 18 patients with Williams-Beuren syndrome. [4] Tassabehji-1996 found that the gene encoding LIM domain kinase 1 (GEM:07q1123/LIMK1) is deleted in Williams syndrome." |
HET | About another type of supravalvular aortic stenosis, so named 'Eisenberg type', see MIM:185500." |
GEN | The gene length is 17.8 kb. The polypeptide product consists of 786 amino acid residues (MM 72 kD) (Indik-1987; Li-1997)." |
REL | GEM:00.0/ELNR1. |
LIK | GEM:03q2/ELNL1. |
REF | HIS,PHE,FOG,PAT
"Beuren AJ: Birth Def Orig Art Ser, 8, N5, 45-56, 1972 HIS,PHE,FOG,PAT "Black, Bonham-Carter: Lancet, 2, 745-748, 1963 MUT "Borg I &: J Med Genet, 32, N9, 692-696, 1995 MUT "Brewer CM &: Arch Dis Child, 74, N1, 59-61, 1996 PHE,PAT,FOG "Burn J: J Med Genet, 23, 389-395, 1986 LOC,MUT,PAT "Curran ME &: Cell, 73, 159-168, 1993 CLO,LIN,MOL "Emanuel BS &: AJHG, 37, 873-882, 1985 LOC,MUT,PAT "Ewart AK &: PNAS, 90, 3226-3230, 1993 HIS,PHE,FOG,PAT "Fanconi &: Helv Paediat Acta, 7, 314-334, 1952 CLO,LOC,MOL "Fazio MJ &: AJHG, 48, 696-703, 1991 CLO,SEQ,EXP "Fazio MJ &: J Invest Derm, 91, 458-464, 1988 PHE,PAT,FOG "Feigl &: Isr J Med Sci, 16, 496-502, 1980 MEB,PAT "Garabedian &: New Engl J Med, 312, 948-952, 1985 CLO,SEQ,EXP "Indik Z &: Connect Tissue Res, 16, 197-211, 1987a CLO,GEN,MOP "Indik Z &: PNAS, 84, N16, 5680-5684, 1987b LOC,CYG "Jefferson RD &: J Med Genet, 23, 474-480, 1986 PHE,PAT,FOG "Jones, Smith: J Pediatr, 86, 718-723, 1975 MEB,PAT "Knudtzon &: Clin Genet, 32, 369-374, 1987 GEN,MUT,PAT "Li DY &: Hum Mol Genet, 6, N7, 1021-1028, 1997 MUT "Lowery MC &: AJHG, 57, 49-53, 1995 MUT "Mari A &: Hum Genet, 96, N4, 444-448, 1995 MEB,PAT "Martin &: New Engl J Med, 313, 888-889, 1985 MEB,PAT "Martin &: Arch Dis Child, 59, 605-613, 1984 MUT "Monaco AP: Curr Biol, 6, N11, 1396-1398, 1996 MUT "Nickerson E &: AJHG, 56, 1156-1161, 1995 LOC,MUT,PAT "Olson TM &: Hum Mol Genet, 4, 1677-1679, 1995 LOC,MUT,PAT "Olson TM &: Hum Mol Genet, 2, 869-873, 1993 MAP "Osborne LR &: Genomics, 36, N2, 328-336, 1996 LIN,MAG,POL,MOL "Palotie A &: CCG, 51, (HGM10), 1057-1058, 1989 MUT "Peoples R &: AJHG, 58, N6, 1370-1373, 1996 MUT "Perez Jurado LA &: AJHG, 59, N4, 781-792, 1996 PHE,PAT,FOG "Preus M: Clin Genet, 25, 422-428, 1984a PHE,PAT,FOG "Preus M: Clin Genet, 25, 429-434, 1984b PHE,PAT,FOG "Preus M: Birth Def Orig Art Ser, 15, N5, 93-104, 1980 LOC,MUT,PAT "Raybould MC &: Ann Hum Genet, 59, (Part 2), 149-161, 1995 PHE,PAT,FOG "Reiss &: J Pediatr, 106, 247-249, 1985 REV,CLO,LOC,PAT "Rosenbloom J: Lab Invest, 51, 605-623, 1984 HIS,PHE,FOG,PAT "Sissman &: Circulation, 19, 458-468, 1959 CLO,SEQ,GEN,MUT "Tassabehji M &: Hum Mol Genet, 6, N7, 1029-1036, 1997 MUT "Tassabehji M &: Nature Genet, 13, N3, 272-273, 1996 MEB,PAT "Taylor &: New Engl J Med, 306, 972-975, 1982 POL "Tromp G &: NAR, 19, 4314, 1991 HIS,PHE,FOG,PAT "Williams &: Circulation, 24, 1311-1318, 1961 POL,LOC "Wydner KS &: Genomics, 23, 125-131, 1994 |
SWI | SWISSPROT: P15502 |
KEY | exce, card, devd, ion |
CLA | coding, basic |
LOC | 07 q11.23 |
MIM | MIM: 130160 |
SYN | SVAS WS WBS |
Смотрите также:
