✦ LIBER ✦

Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation

✍ Scribed by Linda J. Valentijn; Robert A. Ouvrier; Norbert H. A. Van Den Bosch; Pieter A. Bolhuis; Frank Baas; Garth A. Nicholson

Publisher: John Wiley and Sons
Year: 1995
Tongue: English
Weight: 588 KB
Volume: 5
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380050110

No coin nor oath required. For personal study only.

✦ Synopsis

We identified a de novo mutation in the peripheral myelin protein (PMP22) gene of a patient with Dkjkrine-Sottas neuropathy. Single-stranded conformation analysis of PCR-amplified D N A fragments showed an additional fragment for exon 1 in the patient, which was absent in the unaffected parents. Sequence analysis showed a de novo point mutation C8'-+A that results in an amino acid substitution His 12Gln in the first transmembrane domain of PMP22. This provides further evidence that sporadic cases of Dkjjerine-Sottas neuropathy can be due to dominant single base substitutions.

📜 SIMILAR VOLUMES

Déjérine-Sottas neuropathy associated wi

Déjérine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene

✍ Sylvia Bort; Teresa Sevilla; Javier García-Planells; David Blesa; Nuria Paricio; 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 351 KB

Dejerine-Sottas neuropathy in mother and

Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene

✍ Victor V. Ionasescu; Charles C. Searby; Rebecca Ionasescu; Sansnee Chatkupt; Nit 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 55 KB 👁 2 views

We studied a 25-year-old black woman with healthy parents and her 2-year, 11-month-old son. Her motor development was delayed and she started to walk with support when she was 6 years old. She never walked independently and had always used a wheelchair. Neurological evaluation showed severe weakness

De novo mutation of the myelin Po gene i

De novo mutation of the myelin Po gene in Déjérine-Sottas disease (hereditary motor and sensory neuropathy type III): Two amino acid insertion after Asp 118

✍ Tohru Ikegami; Garth Nicholson; Hiroyuki Ikeda; Akihiro Ishida; Heather Johnston 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 314 KB

A de novo duplication in 17p11.2 and a n

A de novo duplication in 17p11.2 and a novel mutation in the Po gene in two Déjérine—Sottas syndrome patients

✍ Kaisa Silander; Päivi Meretoja; Eva Nelis; Vincent Timmerman; Christine Van Broe 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 742 KB

Dejerine-Sottas syndrome (DSS), or hereditary motor and sensory neuropathy (HMSN) type 111, is a severe hypertrophic demyelinating neuropathy with infantile onset. The clinical symptoms are similar to those found in Charcot-Marie-Tooth disease type 1 (CMT1) or HMSN type I patients, but they are more

A point mutation in codon 3 of connexin-

A point mutation in codon 3 of connexin-32 is associated with X-linked charcot-marie-tooth neuropathy

✍ Sanjoy Gupta; Timothy Benstead; Paul Neumann; Duane Guernsey 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 236 KB 👁 2 views

Identification of de novo BSCL2 Ser90Leu

Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with silver syndrome and distal hereditary motor neuropathy

✍ Hyun-Jung Cho; Duk-Hyun Sung; Chang-Seok Ki 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 186 KB