Gene: [01q21/LFP] lipodystrophy, familial partial; [FPL FPLD PFL ]
|
COM |
[1] By genomewide linkage analysis of a large LFP pedigree with 10
affected
individuals, a region associated with FPL between loci D1S534
and D1S1677 was identified (Peters-1997). Later,
by a genome-wide scan with a set of highly polymorphic short
tandem-repeats (STR) in individuals from five well-characterized
pedigrees the LFP locus was mapped to Chr 1q21-22 (Peters-1998).
The maximum two-point lod score obtained with a highly polymorphic
microsatellite at D1S2624 at theta(max)=0 was 5.84. Multipoint-linkage
analysis yielded a peak lod score of 8.25 between D1S305 and D1S1600
(Peters-1998).
[2] By genomewide linkage search using microsatellite markers conclusive evidence of LFP/PFL linkage to 1q21 was shown (D1S498, maximum lod score = 6.89 at theta = 0.00) (Jackson-1998)." |
|
PAT |
Familial partial lipodystrophy is characterized by the gradual atrophy of subcutaneous adipose tissue in the limbs beginning during puberty and adolescence. Subsequently, excess adipose tissue develops in the face, neck, and intraabdominal region. Additional clinical features typically consist of insulin resistance, hyperinsulinemia, impaired glucose tolerance or diabetes mellitus, as well as serum lipid anomalies including mild-to-severe hypertriglyceridemia and reduced levels of high density lipoprotein. Some women may develop hirsutism, menstrual abnormalities, and polycystic ovaries." |
|
HET |
There was no evidence for genetic heterogeneity (alpha=1) in five pedigrees (Peters-1998; Jackson-1998)." |
|
REF |
LIN,PAT,FOG "Anderson JL &: Am J Med Genet, 82, 161-165, 1999 LIN,PAT,FOG "Jackson SNJ &: AJHG, 63, 534-540, 1998 FOG "Peters JM &: Nature Genet, 18, 292-295, 1998 LOC,LIN,PAT "Peters JM &: AJHG, 61, A291-291, 1997 |
|
KEY |
lip, carb |
|
CLA |
unknown, basic |
|
LOC |
01 q21 |
|
MIM |
MIM: 151660 |
|
SYN |
FPL FPLD PFL |
