Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B.

Abstract:

:Charcot-Marie-Tooth disease type 1B (CMT1B) is genetically linked to chromosome 1q21-23. The major peripheral myelin protein gene, P0, has been cloned and localized to the same chromosomal region. P0 is a 28 kDa glycoprotein involved in the compaction of the multilamellar myelin sheet and accounts for more than half of the peripheral myelin protein content. We checked whether P0 is altered in CMT1B, and show here that a 3 basepair deletion in exon 2 of the P0 gene is present in all affected individuals of a CMT1B family. The mutation results in the deletion of serine 34 in the extracellular domain of P0, suggesting that alterations of P0 cause CMT1B.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Kulkens T,Bolhuis PA,Wolterman RA,Kemp S,te Nijenhuis S,Valentijn LJ,Hensels GW,Jennekens FG,de Visser M,Hoogendijk JE

doi

10.1038/ng0993-35

subject

Has Abstract,Author List Incomplete

pub_date

1993-09-01 00:00:00

pages

35-9

issue

1

eissn

1061-4036

issn

1546-1718

journal_volume

5

pub_type

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