Two novel mutations in the lactase gene in a Japanese infant with congenital lactase deficiency

Tohoku Journal of Experimental Medicine

Volumn 227, Issue 1, 2012, Pages 69-72

  Uchida, Nao ^a   Sakamoto, Osamu ^a   Irie, Masahiro ^a   Abukawa, Daiki ^b   Takeyama, Junji ^b   Kure, Shigeo ^a   Tsuchiya, Shigeru ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b MIYAGI CHILDREN S HOSPITAL   (Japan)

Author keywords

Congenital lactase deficiency; Cow's milk allergy; Lactase gene; Oral lactose challenge test; Watery diarrhea

Indexed keywords

GLUCOSE; IMMUNOGLOBULIN E; LACTASE;

ARTICLE; ARTIFICIAL MILK; BREAST MILK; CASE REPORT; COLONOSCOPY; DIARRHEA; DIET THERAPY; EXON; FEMALE; GENE; GENE MUTATION; GENETIC DISORDER; GLUCOSE BLOOD LEVEL; HISTOLOGY; HUMAN; INFANT; INTRAVENOUS ADMINISTRATION; JAPANESE; LACTASE DEFICIENCY; LACTASE GENE; LACTOSE INTAKE; LACTOSE INTOLERANCE; LYMPH NODE HYPERPLASIA; MILK ALLERGY; PROVOCATION TEST; SEQUENCE ANALYSIS; TREATMENT OUTCOME;

BASE SEQUENCE; BLOOD GLUCOSE; FEMALE; HUMANS; INFANT, NEWBORN; JAPAN; LACTASE; LACTOSE; LACTOSE INTOLERANCE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 84865281152     PISSN: 00408727     EISSN: 13493329     Source Type: Journal    
DOI: 10.1620/tjem.227.69     Document Type: Article

References (9)

1. Akabane, J. (1965) Lactose Intorelance. The Joimal of Pediatrie Practice, 28, 697-703 (in Japanese).
2. Behrendt, M., Keiser, M., Hoch, M. & Nairn, H.Y. (2009) Impaired trafficking and subcellular localization of a mutant lactase associated with congenital lactase deficiency. Gastroenterology, 136, 2295-2303.
3. Heyman, M.B. (2006) Committee on Nutrition. Lactose intolerance in infants, children, and adolescents. Pediatrics, 118, 1279-1286.
4. Jarvela, I., Enattah, N.S., Kokkonen, J., Varilo, T., Savilahti, E. & Peltonen, L. (1998) Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene. Am. J. Hum. Genet., 63, 1078-1085.
5. Kuokkanen, M., Kokkonen, J., Enattah, N.S., Ylisaukko-Oja, T., Komu, H., Varilo, T., Peltonen, L., Savilahti, E. & Jarvela, I. (2006) Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency. Am. J. Hum. Genet., 78, 339-344.
6. Nose, O., lida, Y., Kai, H, Harada, T., Ogawa, M. & Yabuuchi, H. (1979) Breath hydrogen test for detecting lactose malabsorp-tion in infants and children. Prevalence of lactose malabsorp-tion in Japanese children and adults. Arch. Dis. Child., 54, 436-440.
7. Savilahti, E., Launiala, K. & Kuitunen, P. (1983) Congenital lactase deficiency. A clinical study on 16 patients. Arch. Dis. Child., 58, 246-252.
8. Torniainen, S., Freddara, R., Routi, T., Gijsbers, C, Catassi, C, Hoglund, P., Savilahti, E. & Jarvela, I. (2009) Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD). BMC Gastroenterol., 9, 8
9. Yabuuchi, H., Ishii, T. & lida, Y (1966) A case report of lactase insufficiency. The Journal of Pediatrie Practice, 29, 1058-1063 (in Japanese).