Gene: [16q221/CTM] cataract, Marner (perinuclear; zonular; lamellar); [CAM ]
|
COM |
The data on the linkage of this locus to haptoglobin gene (GEM:16q221/HP) allow to map the perinuclear cataract gene to subsegment 16q22.1 (Eiberg-1988; Marner-1989)." |
|
HET |
[1] The OMIM Database presents 13 different autosomal dominant types of
cataract, three of which are considered as secondary markers
(MIM:116100; MIM:116700; MIM:123660) and others are supposed to be
independent (MIM:115650; MIM:115700; MIM:115800; MIM:115900; MIM:116150;
MIM:116200; MIM:116300; MIM:116400; MIM:116600; MIM:116800).
[2] In addition, seven autosomal recessive types (MIM:212500, and the remaining six as secondary markers: MIM:212350; MIM:212540; MIM:212550; MIM:212600; MIM:212700; MIM:212720) and three X-linked types (MIM:302200; MIM:302350; and, as a secondary marker, MIM:302300) are indicated. [3] GDB considers only four cataract types as being mapped. These are: CAE (MIM:116200), CCL (MIM:123660), CTM (MIM:116800), and CCT (MIM:302200). However, the form CCL (Coppock-like) appeared to be related to gamma D crystallin locus (GEM:02q3/CRYGD), and therefore the locus CCL was excluded from the HUGEN. The remaining three cataract types, as well as additional two, are presented: GEM:00.0/CTAA1; GEM:00.3/CCAT; CZP1 (GEM:01q2/GJA8); GEM:0X^/CCT; and the given locus, GEM:16q221/CTM." |
|
HIS |
The summary table of MIM-88 indicated total congenital cataract (#11670/CC) for the locus 16q221; however, in the text under number #11670, a reference was made to the report (Reese-1987) that assigned this type of cataract to chr 3 or 4, basing on the data on a family with inherited translocation between these chromosomes in the father and the son, both having CC cataract." |
|
REF |
PAT,LOC,LIN "Eiberg H &: Clin Genet, 34, 272-275, 1988 LOC,CYG "Marner E: Clin Genet, 36, 326, 1989 HIS,PHE,FOG "Marner E: Acta Ophthal, 27, 537-551, 1949 COM "Reese PD &: Arch Ophthal, 105, 1382-1384, 1987 LOC,CYG "Richards &: CCG, 37, (HGM7), 570, 1984 |
|
KEY |
eye |
|
CLA |
unknown, basic |
|
LOC |
16 q22.1 |
|
MIM |
MIM: 116800 |
|
SYN |
CAM |
