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Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea
Human mutation, 2001-09, Vol.18 (3), p.233-242
Höglund, Pia
Sormaala, Markus
Haila, Siru
Socha, Jerzy
Rajaram, Usha
Scheurlen, W.
Sinaasappel, Maarten
De Jonge, Hugo
Holmberg, Christer
Yoshikawa, Hideto
Kere, Juha
2001
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
Höglund, Pia
Sormaala, Markus
Haila, Siru
Socha, Jerzy
Rajaram, Usha
Scheurlen, W.
Sinaasappel, Maarten
De Jonge, Hugo
Holmberg, Christer
Yoshikawa, Hideto
Kere, Juha
Titel
Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea
Ist Teil von
Human mutation, 2001-09, Vol.18 (3), p.233-242
Ort / Verlag
New York: John Wiley & Sons, Inc
Erscheinungsjahr
2001
Quelle
MEDLINE
Beschreibungen/Notizen
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. Hum Mutat 18:233–242, 2001. © 2001 Wiley‐Liss, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1059-7794
eISSN: 1098-1004
DOI: 10.1002/humu.1179
Titel-ID: cdi_proquest_journals_197263917
Format
–
Schlagworte
Antiporters
,
Base Sequence
,
Carrier Proteins - genetics
,
Chloride-Bicarbonate Antiporters
,
Chlorides - metabolism
,
CLD
,
Codon, Nonsense
,
congenital chloride diarrhea
,
Diarrhea - congenital
,
Diarrhea - genetics
,
DNA - chemistry
,
DNA - genetics
,
DNA Mutational Analysis
,
DRA
,
Family Health
,
Gene Deletion
,
genomic rearrangement
,
Humans
,
intestinal anion transport
,
Membrane Proteins - genetics
,
Mutagenesis, Insertional
,
Mutation
,
Mutation, Missense
,
Polymorphism, Genetic
,
Polymorphism, Single-Stranded Conformational
,
Sequence Deletion
,
SLC26A3
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