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Novel DGAT1 Mutations Identified in Congenital Diarrheal Disorder 7: A Case Report with Therapeutic Experience

C Shi

C Shi

Department of Pediatrics, The Fourth Affiliated Hospital of China Medical UniversityShenyang, China
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Shi, C
, 
XL Liu

XL Liu

Department of Clinical Genetics, Shengjing Hospital of China Medical UniversityShenyang, China
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Liu, XL
, 
XN Li

XN Li

Department of Pediatrics, The Fourth Affiliated Hospital of China Medical UniversityShenyang, China
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Li, XN
 y 
YJ Zhao

YJ Zhao

Department of Pediatrics, Shengjing Hospital of China Medical UniversityShenyang, China
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Zhao, YJ
  
06 sept 2024
Novel DGAT1 Mutations Identified in Congenital Diarrheal Disorder 7: A Case Report with Therapeutic Experience's Cover Image
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Categoría del artículo: Case Report
Publicado en línea: 06 sept 2024
Páginas: 69 - 74
DOI: https://doi.org/10.2478/bjmg-2024-0005
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© 2024 C Shi et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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.
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).
(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).

Figure 3.

The growth curve of the proband. Red arrows indicate the time when the proband started a fat-restricted diet.
The growth curve of the proband. Red arrows indicate the time when the proband started a fat-restricted diet.

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]

c.288+1del

c.629_631del

p.?

p. Ser210del

 Before the age of 17 day (vomiting, diarrhea, weight loss) FTT, vomiting, diarrhea, hypoalbuminemia
NM [5]

c.428_429del

c.629_631del (paternal)

p. Phe143Cysfs*8

p. Ser210del

 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]

c.1311+1G>A

c.1462delG

-

p. Ala488Profs*226

 1 week (vomiting, tired, and sleepy during a feed) FTT, diarrhea, vomiting, nutritional microcephaly, anemia, arachnodactyly and mild dysmorphic facial features, hypogammaglobulinemia
NM [6]

c.1310A>G (de novo)

c.981+1G>T(maternal)

p. Gln437Arg

-

 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]

c.895-1G>A (paternal)

c.751+1G>C (maternal)

-

-

 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]

c.676+1G>T(maternal)

c.367_368delCT(paternal)

-

-

 Birth (diarrhea, vomiting) FTT, diarrhea, vomiting, hypoalbuminemia, and triglyceride levels were normal
Latin America [14]

c.1162C>T

c.838C>T

p. His388Tyr

p. Arg280*

 2 months (diarrhea) Diarrhea, growth retardation, anemia, hypoalbuminemia, thrombocytosis, hypogammaglobulinemia.
Caucasian [15]

c.1013_1015delTCT(maternal)

c.1260C>G (paternal)

p. Phe338del

p. Ser420Arg

 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)

c.1215_1216 del AG (paternal)

c.838C>T (maternal)

p. Phe408fsTer74

p. Arg280*

 Birth (diarrhea) FTT, feeding difficulties, vomiting, hypoalbuminemia, hypertriglyceridemia
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