Figure 1.
Sanger sequencing results show mutations in DGAT1 detected in the proband's family. (a) The proband was maternally inherited the variant of c.838 C>T in the DGAT1 gene. (b) The proband was paternally inherited the variant of c.1215 _ 1216 del AG in the DGAT1 gene.
Figure 2.
(a) The schematic presentation of the DGAT1 mutation spectrum in previous studies, and the mutations identified in this study are shown in red. (b) DGAT1 structure model with DGAT1 mutations identified in this study. Note: these pictures are drawn by using DOG2.0 (http://dog.biocuckoo.org/) and PyMOL (www.pymol.org). Reference database for protein domain (https://www.ebi.ac.uk/interpro/protein/UniProt/O75907/entry/pfam/#table).
Table 1.
Characteristics of published DGAT1 deficiency patients
| Descent | DGAT1 mutation site | Protein position | Onset age | Phenotype |
|---|---|---|---|---|
| Turkish [1] | c.1202G>A | p. Trp401Ter | Birth (diarrhea) | FTT, vomiting, hypoalbuminemia, hypogammaglobulinemia, edema |
| Turkish [1] | c.573_574delAGinsCCCAT CCCACCCTGCCCATCT | - | 3 weeks (diarrhea) | Vomiting, hypoalbuminemia, edema, FTT, hypogammaglobulinemia, hypertriglyceridemia |
| Turkish [1] | c.937-1G>A | - | 2 months (diarrhea) | FTT, diarrhea, vomiting, hypoalbuminemia, hypogammaglobulinemia |
| Turkish [1] | c.953insC | p. Ile319Hisfs*31 | Before the age of 2.5 months (diarrhea) | FTT, vomiting, diarrhea, hypoalbuminemia, hypogammaglobulinemia |
| Caucasian [1] and NM [6] | c.629_631delCCT | p. Ser210del | Before the age of 2 weeks (diarrhea, vomiting) | Vomiting, diarrhea, FTT, malnutrition, hypoalbuminemia. |
| NM [5] |
|
| Before the age of 17 day (vomiting, diarrhea, weight loss) | FTT, vomiting, diarrhea, hypoalbuminemia |
| NM [5] |
|
| The early postnatal period (feed intolerance) | FTT, vomiting, diarrhea |
| Mexican [6] | c.676+1G>A | - | 11 days (vomiting) | Vomiting, Diarrhea, feeding difficulties, FTT, mild developmental delay |
| NM [6] |
|
| 1 week (vomiting, tired, and sleepy during a feed) | FTT, diarrhea, vomiting, nutritional microcephaly, anemia, arachnodactyly and mild dysmorphic facial features, hypogammaglobulinemia |
| NM [6] |
|
| 3 weeks (poor feeding and vomiting) | FTT, poor feeding, vomiting, short stature, rickets, abnormal brain MRI, anemia, hypoglycemia. |
| Ashkenazi Jewish [3] and Hispanic [7] | c.751+2T>C | - | Before the age of 7 weeks (vomiting) | Diarrhea, vomiting, malnutrition, hypertriglyceridemia, or triglyceride levels were normal, and hypoalbuminemia |
| South Asian [8] | c.314T>C | p. Leu105Pro | Shortly after birth (diarrhea) | Diarrhea, FTT, hypertriglyceridemia, hypoalbuminemia |
| Chinese [11] |
|
| Soon after birth (vomiting) | Vomiting, diarrhea, hypoalbuminemia, hypertriglyceridemia |
| Chinese [12] | c.895-1G>A | - | Birth (diarrhea, vomiting) | Diarrhea, vomiting, Malnutrition, hypoalbuminemia, intestinal lymphangiectasia, |
| Chinese [12] | c.1249-6T>G | - | 30 months (edema) | Malnutrition, hypoalbuminemia, lymphopenia, edema |
| Arab-Muslim [4] | c.884T>C | p. Leu295Pro | 2 months (diarrhea) | Diarrhea, hypoalbuminemia, hypogammaglobulinemia, FTT, edema, anemia |
| Chinese [13] |
|
| Birth (diarrhea, vomiting) | FTT, diarrhea, vomiting, hypoalbuminemia, and triglyceride levels were normal |
| Latin America [14] |
|
| 2 months (diarrhea) | Diarrhea, growth retardation, anemia, hypoalbuminemia, thrombocytosis, hypogammaglobulinemia. |
| Caucasian [15] |
|
| 1 months (vomiting) | FTT, vomiting, diarrhea, malnutrition, hypoalbuminemia, rickets |
| Chinese [16] | c.133delG | p. Asp45Thrfs*22 | 20 days (vomiting) | FTT, feeding difficulties, vomiting, diarrhea, hypoalbuminemia, hypertriglyceridemia |
| Chinese (This study) |
|
| Birth (diarrhea) | FTT, feeding difficulties, vomiting, hypoalbuminemia, hypertriglyceridemia |
Figure 3.
The growth curve of the proband. Red arrows indicate the time when the proband started a fat-restricted diet.