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Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon.
- Source :
-
Clinical genetics [Clin Genet] 2017 Dec; Vol. 92 (6), pp. 632-638. Date of Electronic Publication: 2017 Oct 04. - Publication Year :
- 2017
-
Abstract
- Cystinuria is a heterogeneous, rare but important cause of inherited kidney stone disease due to mutations in 2 genes: SLC3A1 and SLC7A9. Antenatal hyperechoic colon (HEC) has been reported in some patients as a non-pathological consequence of the intestinal transport defect. We report 83 patients affected by cystinuria: 44 presented prenatally with a HEC (HEC group) and 39 with a classical postnatal form (CC group). SLC3A1 and SLC7A9 were sequenced. All patients were fully genotyped, and the relationship between the genotype and clinical features was analyzed. We identified mutations in SLC3A1 in 80% of the HEC group and in only 49% of the CC group. The SLC3A1 p.Thr216Met mutation was found in 21% of the alleles in the HEC group but was never found in the CC group. Most of the mutations found in the HEC group were considered severe mutations in contrast with the CC group. Twenty-five novel mutations were reported. This study shows a relationship between genotype and the clinical form of cystinuria, suggesting that only the patients with the most severe mutations presented with an HEC. These results emphasized the need for prenatal cystinuria screening using classical third-trimester ultrasound scan and the early management of suspected newborns.<br /> (© 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
- Subjects :
- Alleles
Amino Acid Transport Systems, Basic metabolism
Amino Acid Transport Systems, Neutral metabolism
Colon metabolism
Colon pathology
Cystinuria metabolism
Cystinuria pathology
Exons
Female
Fetus
Gene Expression
Genetic Association Studies
Genotype
Humans
Infant, Newborn
Introns
Phenotype
Pregnancy
Pregnancy Trimester, Third
Ultrasonography
Amino Acid Transport Systems, Basic genetics
Amino Acid Transport Systems, Neutral genetics
Colon diagnostic imaging
Cystinuria diagnostic imaging
Cystinuria genetics
Mutation
Subjects
Details
- Language :
- English
- ISSN :
- 1399-0004
- Volume :
- 92
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- Clinical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 28646536
- Full Text :
- https://doi.org/10.1111/cge.13079