𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: a case report

✍ Scribed by Maria Pia Sperandeo; Anna Buoninconti; Annalisa Passariello; Iris Scala; Andrea Adami; Tuija Lauteala; Juha Mykkänen; Generoso Andria; Gianfranco Sebastio

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
105 KB
Volume
19
Category
Article
ISSN
0197-3851

No coin nor oath required. For personal study only.

✦ Synopsis

Lysinuric protein intolerance (LPI) is a rare autosomal recessive defect of cationic amino acid transport (CAA), relatively common in Finland and Italy. After weaning, LPI patients present poor feeding, vomiting and failure to thrive. A severe pulmonary complication and episodes of metabolic imbalance may lead to death. Prenatal diagnosis has not been available due to lack of either biochemical or molecular markers to be used in the fetal period. The LPI locus has recently been assigned to chromosome 14q12, very close to the T-cell receptor alpha-chain (TCRA) locus. We carried out a prenatal diagnosis for LPI by linkage analysis in one LPI Italian family after CVS. For the haplotype analysis 11 DNA markers from the LPI critical region were used (D14S742, D14S50, D14S283, five TCRA intragenic polymorphic sites, D14S990, MYH7 and D14S80). It was concluded that the haplotype analysis indicated that the fetus was healthy as he had inherited the two wild alleles of the LPI locus. After birth, the clearances of CAA were measured and found to be in the normal range, thus confirming the result of the prenatal diagnosis. The prenatal diagnosis of LPI can now be offered to families affected by LPI.

📜 SIMILAR VOLUMES

Prenatal diagnosis of unilateral megalen
Prenatal diagnosis of unilateral megalencephaly by 2D and 3D ultrasound: a case report
✍ E. Hafner; W. Bock; G. Zoder; K. Schuchter; A. Rosen; M. Plattner 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 191 KB 👁 1 views

Unilateral megalencephaly is a rare malformation of the central nervous system characterized by an overgrowth of one cerebral hemisphere due to an anomaly of neuronal cell migration. It shows macroscopic and histological alterations of the central nervous tissue. We report on a case of this malform

Case report: prenatal diagnosis of diast
Case report: prenatal diagnosis of diastrophic dysplasia by ultrasound at 21 weeks of gestation in a mother with massive obesity
✍ Christine Jung; Christof Sohn; Consolato Sergi 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 231 KB 👁 2 views

Routine prenatal ultrasound of a massively obese mother at 21 weeks of gestation revealed short-limb dwarfism in the fetus. The proportionate shortening of tubular bones of about 50 per cent of the normal length, the absence of thoracic dysplasia, and a normal head circumference narrowed the diagnos

Prenatal diagnosis of the carbohydrate-d
Prenatal diagnosis of the carbohydrate-deficient glycoprotein syndrome type 1A (CDG1A) by a combination of enzymology and genetic linkage analysis after amniocentesis or chorionic villus sampling
✍ Joanne Charlwood; Peter Clayton; Geoffrey Keir; Nasi Mian; Elisabeth Young; Brya 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 173 KB

Two pregnancies at risk for the carbohydrate-deficient glycoprotein syndrome Type 1A (CDG1A, phosphomannomutase deficient) were monitored by enzyme and genetic linkage analyses. The index case in both families had a proven deficiency of phosphomannomutase (PMM). An unaffected fetus was predicted in