𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Identification of ten novel mutations in patients with eIF2B-related disorders

✍ Scribed by Andreas Ohlenbusch; Marco Henneke; Knut Brockmann; Maria Goerg; Folker Hanefeld; Alfried Kohlschütter; Jutta Gärtner

Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
82 KB
Volume
25
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

✦ Synopsis

Communicated by Ronald J.A. Wanders

Autosomal recessive inherited mutations in each of the five eukaryotic initiation factor 2B (eIF2B) subunits are known to cause white matter abnormalities with a wide continuum of clinical signs and severity leading to the concept of eIF2B-related disorders. The clinical spectrum extends from fatal infantile forms to adult forms with slow or absent neurological deterioration. In this study 15 well-characterised patients with the classical form of leukoencephalopathy with vanishing white matter (VWM) or with phenotypic variants like ovarioleukodystrophy were investigated for mutations in the genes EIF2B1,

📜 SIMILAR VOLUMES

Identification of novel mutations in pat
Identification of novel mutations in patients with Shwachman-Diamond syndrome
✍ Elena Nicolis; Alberto Bonizzato; Baroukh M. Assael; Marco Cipolli 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 87 KB 👁 2 views

## Communicated by Mireille Claustres Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disease, mainly characterized by exocrine pancreatic insufficiency, hematological dysfunction and skeletal abnormalities. The SDS disease locus was mapped to chromosome 7q11 and disease-associated m

Identification and in silico analyses of
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders
✍ Gábor Mátyás; Eliane Arnold; Thierry Carrel; Daniela Baumgartner; Catherine Boil 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 450 KB 👁 1 views

Very recently, heterozygous mutations in the genes encoding transforming growth factor beta receptors I (TGFBR1) and II (TGFBR2) have been reported in Loeys-Dietz aortic aneurysm syndrome (LDS). In addition, dominant TGFBR2 mutations have been identified in Marfan syndrome type 2 (MFS2) and familial

Mutation analysis in patients with Wilso
Mutation analysis in patients with Wilson disease: Identification of 4 novel mutations
✍ Regina Haas; Bertha Gutierrez-Rivero; Judith Knoche; Klaus Böker; Michael P. Man 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 21 KB 👁 2 views

In order to obtain novel mutations in the recently discovered Wilson disease gene, we screened 5 unrelated German individuals for mutations in the 21 exons and their flanking intronic sequences. We detected 9 mutations affecting the Wilson disease gene. Four of those, designated 802-808delTGTAAGT, 2

Identification and characterization of f
Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis
✍ Michele Sbaragli; Lucia Bibi; Maria Gabriela Pittis; Chiara Balducci; Pirkko Hei 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 109 KB 👁 1 views

## Mutation analysis performed on six Italian families with alpha-mannosidosis type II, allowed the identification of five new mutations in the MAN2B1 gene: c.157G>T, c.562C>T, c.599A>T, c.293dupA, c.2402G>A (p.E53X, p.R188X, p.H200L, p.Y99VfsX61, p.G801D). Protein residues G801 and H200 are conse

Identification of novel VMD2 gene mutati
Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy
✍ D. Marchant; K. Gogat; S. Boutboul; M. Péquignot; C. Sternberg; P. Dureau; O. Ro 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 193 KB 👁 1 views

We report five novel VMD2 mutations in Best's macular dystrophy patients (S16F, I73N, R92H, V235L, and N296S). An SSCP analysis of the VMD2 11 exons revealed electrophoretic mobility shifts exclusively in exons 2, 3, 4, 6 and 8. Direct sequencing indicated that these shifts are caused by mono-alleli