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

鸯铗痂蝈 蜞赕:

  • Gene: [11q14/ELA3] elastase 3, neutrophil (medullasin, bone marrow serine protease);
  • Gene: [12p1/ELA1] elastase 1 (pancreatic);
  • Gene: [19p133/ELA2] elastase 2 (neutrophil?);
  • ELN 沐 囫蜩磬
  • Gene: [07q213/CALCR] calcitonin receptor;
  • Gene: [07q1123/FZD9] frizzled (Drosophila) homolog 9; [FZD3 ]
  • HUGEN-囫蜩