Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family
Congenital generalized lipodystrophies (CGLs) are a heterogeneous group of rare,
monogenic disorders characterized by loss of sub-cutaneous fat, muscular hypertrophy,
acanthosis nigricans, hepatomegaly, cardiac arrhythmias, impaired metabolism and mental
retardation. Four different but overlapping phenotypes (CGL1-4) have been identified, which
are caused by mutations in AGPAT2 at 9q34. 3, BSCL2 at 11q13, CAV1 at 7q31. 1, and
PTRF at 17q21. 2. In this study, we performed genome-wide homozygosity mapping of two …
monogenic disorders characterized by loss of sub-cutaneous fat, muscular hypertrophy,
acanthosis nigricans, hepatomegaly, cardiac arrhythmias, impaired metabolism and mental
retardation. Four different but overlapping phenotypes (CGL1-4) have been identified, which
are caused by mutations in AGPAT2 at 9q34. 3, BSCL2 at 11q13, CAV1 at 7q31. 1, and
PTRF at 17q21. 2. In this study, we performed genome-wide homozygosity mapping of two …