𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Prenatal diagnosis of sporadic neurofibromatosis type 1 (NF1) by RNA and DNA analysis of a splicing mutation

✍ Scribed by Elisabet Ars; Helena Kruyer; Antonia Gaona; Eduard Serra; Conxi Lázaro; Xavier Estivill

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

No coin nor oath required. For personal study only.

✦ Synopsis

Neurofibromatosis type 1 (NF1) is one of the most common genetic disorders in humans with an incidence of 1 in 3500. Most of the NF1 mutations reported so far (over 240 mutations) are unique. Specific prenatal diagnosis can only be provided to familial cases by an indirect linkage analysis or to families with a previously identified mutation. Here we report the first prenatal diagnosis in sporadic NF1 by direct characterization of the mutation. We first identified the skipping of exon 10b of NF1 in the mRNA from a woman affected by NF1 and without familial history of the disease. The analysis of genomic DNA identified mutation IVS10b+1G<A as the cause of the skipping of exon 10b. Chorionic villus sampling (CVS) was performed at 10 weeks of gestation and total RNA was directly extracted from the sample. After reverse transcription (RT) and polymerase chain reaction (PCR) of the cDNA, the skipping of exon 10b was not identified in the CVS upon agarose gel electrophoresis. The fetal origin of the CVS was confirmed via polymorphic markers and the absence of the IVS10b+1G<A mutation was confirmed by genomic analysis.

📜 SIMILAR VOLUMES

PRENATAL DIAGNOSIS OF GLYCOGEN STORAGE D
PRENATAL DIAGNOSIS OF GLYCOGEN STORAGE DISEASE TYPE 1a BY DIRECT MUTATION DETECTION
✍ LEE-JUN C. WONG 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 361 KB

Current laboratory diagnosis for glycogen storage disease type la (GSD la) is established by functional enzyme assay to demonstrate the deficiency of glucosed-phosphate phosphatase (G6Pase). This procedure requires liver biopsy and is impractical for routine prenatal diagnosis owing to the high morb

A variable combination of features of No
A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene
✍ Ulrike Hüffmeier; Martin Zenker; Juliane Hoyer; Raimund Fahsold; Anita Rauch 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 204 KB 👁 1 views

## Abstract Signs of neurofibromatosis type 1 (NF1) and Noonan syndrome (NS), two distinct autosomal dominant disorders, occur together in patients reported as Watson syndrome (WS), neurofibromatosis‐Noonan syndrome (NFNS), partial LEOPARD syndrome, NS with features of NF1, and NF1 with Noonan‐like

Exhaustive mutation analysis of the NF1
Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects
✍ Ludwine M. Messiaen; Tom Callens; Geert Mortier; Diane Beysen; Ina Vandenbroucke 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 493 KB 👁 2 views

Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders and is caused by mutations in the NF1 gene. Mutation detection is complex due to the large size of the NF1 gene, the presence of pseudogenes and the great variety of possible lesions. Although there is no evidence

Mutation screening of neurofibromatosis
Mutation screening of neurofibromatosis type 1 (NF1) exons 28 and 29 with single strand conformation polymorphism (SSCP): Five novel mutations, one recurrent transition and two polymorphisms in a panel of 118 unrelated NF1 patients
✍ Hartmut Peters; Andrea Lüder; Anja Harder; Markus Schuelke; Sigrid Tinschert 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 17 KB 👁 1 views

Neurofibromatosis type 1 is a clinically variable disorder caused mostly by small mutations within the NF1 gene on chromosome 17q11.2. We used Single Strand Conformation Polymorphism (SSCP) and radioactive sequencing to screen NF1 exons 28 and 29 from 118 unrelated patients, diagnosed with NF1 accor