| Id |
Subject |
Object |
Predicate |
Lexical cue |
| T1 |
0-115 |
Sentence |
denotes |
A Taiwanese boy with congenital generalized lipodystrophy caused by homozygous Ile262fs mutation in the BSCL2 gene. |
| T2 |
116-292 |
Sentence |
denotes |
Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disease that is characterized by a near-complete absence of adipose tissue from birth or early infancy. |
| T3 |
293-522 |
Sentence |
denotes |
Mutations in the BSCL2 gene are known to result in CGL2, a more severe phenotype than CGL1, with earlier onset, more extensive fat loss and biochemical changes, more severe intellectual impairment, and more severe cardiomyopathy. |
| T4 |
523-706 |
Sentence |
denotes |
We report a 3-month-old Taiwanese boy with initial presentation of a lack of subcutaneous fat, prominent musculature, generalized eruptive xanthomas, and extreme hypertriglyceridemia. |
| T5 |
707-816 |
Sentence |
denotes |
Absence of mechanical adipose tissue in the orbits and scalp was revealed by head magnetic resonance imaging. |
| T6 |
817-958 |
Sentence |
denotes |
Hepatomegaly was noticed, and histological examination of a liver biopsy specimen suggested severe hepatic steatosis and periportal necrosis. |
| T7 |
959-1103 |
Sentence |
denotes |
However, echocardiography indicated no sign of cardiomyopathy and he showed no distinct intellectual impairment that interfered with daily life. |
| T8 |
1104-1186 |
Sentence |
denotes |
About 1 year later, abdominal computed tomography revealed enlargement of kidneys. |
| T9 |
1187-1291 |
Sentence |
denotes |
He had a homozygous insertion of a nucleotide, 783insG (Ile262fs mutation), in exon 7 of the BSCL2 gene. |
| T10 |
1292-1431 |
Sentence |
denotes |
We reviewed the genotype of CGL cases from Japan, India, China and Taiwan, and found that BSCL2 is a major causative gene for CGL in Asian. |
