Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations

S. Kemp; M. J. Ligtenberg; B. M. van Geel; P. G. Barth; R. A. Wolterman; F. Schoute; C. O. Sarde; J. L. Mandel; B. A. van Oost; P. A. Bolhuis

doi:https://doi.org/10.1006/bbrc.1994.1979

Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations

S. Kemp, M. J. Ligtenberg, B. M. van Geel, P. G. Barth, R. A. Wolterman, F. Schoute, C. O. Sarde, J. L. Mandel, B. A. van Oost, P. A. Bolhuis

Other Departments

Research output: Contribution to journal › Article › Academic › peer-review

72 Citations (Scopus)

Abstract

The gene for X-linked adrenoleukodystrophy (ALD) was recently identified. Intragenic deletions of several kilobases were found in about 7% of patients. Point mutations, expected to be very heterogeneous, were identified so far in only two patients. We report the identification of a two base pair deletion at position 1801-1802 of the ALD cDNA, located within the fifth exon of the ALD gene, which precedes the two consensus motives for ATP-binding. This microdeletion was found in five out of 40 unrelated ALD kindreds, indicating that this position is a hot spot for mutations. The mutation was observed both in patients with childhood cerebral ALD (CCALD) and in patients with adrenomyeloneuropathy (AMN)

Original language	English
Pages (from-to)	647-653
Journal	Biochemical and Biophysical Research Communications
Volume	202
Issue number	2
DOIs	https://doi.org/10.1006/bbrc.1994.1979
Publication status	Published - 1994

Access to Document

https://doi.org/10.1006/bbrc.1994.1979

Cite this

Kemp, S., Ligtenberg, M. J., van Geel, B. M., Barth, P. G., Wolterman, R. A., Schoute, F., Sarde, C. O., Mandel, J. L., van Oost, B. A., & Bolhuis, P. A. (1994). Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations. Biochemical and Biophysical Research Communications, 202(2), 647-653. https://doi.org/10.1006/bbrc.1994.1979

@article{349f21c169214baabc67e45efc761e7c,

title = "Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations",

abstract = "The gene for X-linked adrenoleukodystrophy (ALD) was recently identified. Intragenic deletions of several kilobases were found in about 7% of patients. Point mutations, expected to be very heterogeneous, were identified so far in only two patients. We report the identification of a two base pair deletion at position 1801-1802 of the ALD cDNA, located within the fifth exon of the ALD gene, which precedes the two consensus motives for ATP-binding. This microdeletion was found in five out of 40 unrelated ALD kindreds, indicating that this position is a hot spot for mutations. The mutation was observed both in patients with childhood cerebral ALD (CCALD) and in patients with adrenomyeloneuropathy (AMN)",

author = "S. Kemp and Ligtenberg, {M. J.} and {van Geel}, {B. M.} and Barth, {P. G.} and Wolterman, {R. A.} and F. Schoute and Sarde, {C. O.} and Mandel, {J. L.} and {van Oost}, {B. A.} and Bolhuis, {P. A.}",

year = "1994",

doi = "https://doi.org/10.1006/bbrc.1994.1979",

language = "English",

volume = "202",

pages = "647--653",

journal = "Biochemical and Biophysical Research Communications",

issn = "0006-291X",

publisher = "Academic Press Inc.",

number = "2",

}

Kemp, S, Ligtenberg, MJ, van Geel, BM, Barth, PG, Wolterman, RA, Schoute, F, Sarde, CO, Mandel, JL, van Oost, BA & Bolhuis, PA 1994, 'Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations', Biochemical and Biophysical Research Communications, vol. 202, no. 2, pp. 647-653. https://doi.org/10.1006/bbrc.1994.1979

TY - JOUR

T1 - Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations

AU - Kemp, S.

AU - Ligtenberg, M. J.

AU - van Geel, B. M.

AU - Barth, P. G.

AU - Wolterman, R. A.

AU - Schoute, F.

AU - Sarde, C. O.

AU - Mandel, J. L.

AU - van Oost, B. A.

AU - Bolhuis, P. A.

PY - 1994

Y1 - 1994

N2 - The gene for X-linked adrenoleukodystrophy (ALD) was recently identified. Intragenic deletions of several kilobases were found in about 7% of patients. Point mutations, expected to be very heterogeneous, were identified so far in only two patients. We report the identification of a two base pair deletion at position 1801-1802 of the ALD cDNA, located within the fifth exon of the ALD gene, which precedes the two consensus motives for ATP-binding. This microdeletion was found in five out of 40 unrelated ALD kindreds, indicating that this position is a hot spot for mutations. The mutation was observed both in patients with childhood cerebral ALD (CCALD) and in patients with adrenomyeloneuropathy (AMN)

AB - The gene for X-linked adrenoleukodystrophy (ALD) was recently identified. Intragenic deletions of several kilobases were found in about 7% of patients. Point mutations, expected to be very heterogeneous, were identified so far in only two patients. We report the identification of a two base pair deletion at position 1801-1802 of the ALD cDNA, located within the fifth exon of the ALD gene, which precedes the two consensus motives for ATP-binding. This microdeletion was found in five out of 40 unrelated ALD kindreds, indicating that this position is a hot spot for mutations. The mutation was observed both in patients with childhood cerebral ALD (CCALD) and in patients with adrenomyeloneuropathy (AMN)

U2 - https://doi.org/10.1006/bbrc.1994.1979

DO - https://doi.org/10.1006/bbrc.1994.1979

M3 - Article

C2 - 8048932

SN - 0006-291X

VL - 202

SP - 647

EP - 653

JO - Biochemical and Biophysical Research Communications

JF - Biochemical and Biophysical Research Communications

IS - 2

ER -