Japanese siblings with congenital chloride diarrhea

Yoshikawa, Hideto; Watanabe, Toru; Abe, Tokinari; Sato, Mitsuya; Oda, Y.

doi:10.1046/j.1442-200x.2000.01215.x

Cited by 8 publications

(7 citation statements)

References 7 publications

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“…1) that was found in two Japanese siblings [Yoshikawa et al, 2000] appears to be the first example of a gross rearrangement in the SLC26A3 gene. The deletion removes exons 7 and 8 from the SLC26A3 mRNA, causes frameshift, and truncates the putative transmembrane protein.…”

Section: Discussionmentioning

confidence: 80%

“…The first large rearrangement of the SLC26A3 gene identified to date was found in two Japanese siblings, whose clinical presentation of the disease has been published recently [Yoshikawa et al, 2000]. They both were homozygous for a 3.5 kb genomic deletion mutation in the middle of the SLC26A3 gene.…”

Section: Resultsmentioning

confidence: 94%

“…The families were from Holland (n=2), Norway (n=1), Germany (n=1), Japan (n=1) [reported by Yoshikawa et al, 2000], Poland (n=1), and Kuwait (n=1). The single German family had known ancestry in Palestine, and parents of the one of the two Dutch families were Moroccan in origin.…”

Section: Patientsmentioning

confidence: 99%

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Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea

et al. 2001

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Congenital chloride diarrhea (CLD) is an autosomal recessive disorder characterized by defective intestinal electrolyte absorption, resulting in voluminous osmotic diarrhea with high chloride content. A variety of mutations in the solute carrier family 26, member 3 gene (SLC26A3, previously known as CLD or DRA) are responsible for the disease. Since the identification of the SLC26A3 gene and the determination of its genomic structure, altogether three founder and 17 private mutations have been characterized within miscellaneous ethnic groups. We screened for mutations in seven unrelated families with CLD. The diagnoses were confirmed by fecal chloride measurements. The combined PCR-SSCP and sequencing analyses revealed altogether seven novel mutations including two missense mutations (S206P, D468V), two splicing defects (IVS12-1G>C, IVS13-2delA), one nonsense mutation (Q436X), one insertion/deletion mutation (2104-2105delGGins29-bp), and an intragenic deletion of SLC26A3 exons 7 and 8. Two previously identified mutations were also found. This is the first report of rearrangement mutations in SLC26A3. Molecular features predisposing SLC26A3 for the two rearrangements may include repetitive elements and palindromic-like sequences. The increasingly wide diversity of SLC26A3 mutations suggests that mutations in the SLC26A3 gene may not be rare events.

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Section: Discussionmentioning

confidence: 80%

Section: Resultsmentioning

confidence: 94%

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Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea

et al. 2001

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“…Loss of electrolytes in acidic stools are osmotically followed by water, resulting in voluminous watery diarrhea [Norio et al, 1971;Holmberg et al, 1975Holmberg et al, , 1977a. Diarrhea begins in utero, leading to polyhydramnios and distended and fluid-filled loops of fetal intestine, visible in antenatal ultrasound investigation [Kirkinen and Jouppila, 1984;Yoshikawa et al, 2000]. Symptoms due to a rapid depletion of extracellular fluid are marked in the neonatal period, with hyponatremia, hypochloremia, hyperbilirubinemia, later accompanied by metabolic alkalosis, hypokalemia, and secondary hyperaldosteronism [Holmberg et al, 1977b;Holmberg, 1978].…”

Section: Congenital Chloride Diarrheamentioning

confidence: 99%

SLC26A3 mutations in congenital chloride diarrhea

et al. 2002

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Congenital chloride diarrhea (CLD) is an autosomal recessive disorder of intestinal electrolyte absorption. It is characterized by persistent secretory diarrhea resulting in polyhydramnios and prematurity prenatally, and dehydration, hypoelectrolytemia, hyperbilirubinemia, abdominal distention, and failure to thrive immediately after birth. CLD is caused by mutations in the solute carrier family 26, member 3 gene (SLC26A3, alias CLD or DRA), which encodes a Na+-independent Cl-/HCO3- (or OH-) exchanger. SLC26A3 is a member of the SLC26 sulfate permease/anion transporter family and it is expressed mainly in the apical brush border of intestinal epithelium. The only extraintestinal tissues showing SLC26A3 expression are eccrine sweat glands and seminal vesicles. A wide variety of different mutations in the SLC26A3 gene have been associated with CLD with no apparent evidence of phenotype-genotype correlation. The clinical course of CLD, however, is variable and may rather depend on environmental factors and compensatory mechanisms than mutations. In this report, we present a summary of all published and two novel SLC26A3 mutations and polymorphisms, and review them in the context of their functional consequences and clinical implications.

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“…There have been reports of CLD in siblings, but not twins [5-9]. We report a case of dizygotic twins affected by CLD, born to non-consanguineous parents.…”

Section: Introductionmentioning

confidence: 92%

Congenital Chloride Diarrhea in Dizygotic Twins

Seo

Lee

Kim

et al. 2013

Pediatr Gastroenterol Hepatol Nutr

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Congenital chloride diarrhea (CLD) is a rare inherited autosomal recessive disorder. Mutations of the solute carrier family 26 member 3 gene cause profuse, chloride ion rich diarrhea, which results in hypochloremia, hyponatremia and metabolic alkalosis with dehydration. If a fetal ultrasound shows bowel dilatation suggestive of bowel obstruction, or if a neonate shows persistent diarrhea and metabolic alkalosis, CLD should be considered in the differential diagnosis. The severity of CLD varies, but early detection and early therapy can prevent complications including growth failure. We report a case of dizygotic twins affected by CLD who had been born to non-consanguineous parents. Both of them showed growth failure, but one of the twins experienced worse clinical course. He showed developmental delay, along with dehydration and severe electrolyte imbalance. He was diagnosed with CLD first at 6-month age, and then the other one was also diagnosed with CLD.

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Japanese siblings with congenital chloride diarrhea

Cited by 8 publications

References 7 publications

Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea

Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea

SLC26A3 mutations in congenital chloride diarrhea

Congenital Chloride Diarrhea in Dizygotic Twins

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