Carrier detection in sanfilippo syndrome type B

Report of six families

Jeffery M Vance, P. M. Conneally, R. S. Wappner, P. L. Yu, I. K. Brandt, Margaret A Pericak-Vance

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

Serum samples from 175 individuals in six Sanfilippo syndrome type B (SFB) families and 360 White controls were assayed for serum α-N-acetyl-D-glucosaminidase (NAG) activity. Only minimal overlap was observed between the controls' NAG activity distribution and that of the 12 obligate heterozygotes. The distribution of NAG activity was log transformed to reduce skewness, and segregation of family members with a prior risk of being a SFB carrier was well within expected limits. However, in one consanguineous family the NAG activity of both parents of one SFB obligate heterozygote was within the normal range for NAG activity. Plausible explanations for this finding are discussed. Additionally, the serum NAG activity of one control and her mother were found to lie within one standard deviation of the obligate heterozygote mean. These individuals are most probably carriers for SFB.

Original languageEnglish
Pages (from-to)135-140
Number of pages6
JournalClinical Genetics
Volume20
Issue number2
StatePublished - Dec 29 1981
Externally publishedYes

Fingerprint

Mucopolysaccharidosis III
Hexosaminidases
Heterozygote
Serum
Reference Values
Parents
Mothers

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Vance, J. M., Conneally, P. M., Wappner, R. S., Yu, P. L., Brandt, I. K., & Pericak-Vance, M. A. (1981). Carrier detection in sanfilippo syndrome type B: Report of six families. Clinical Genetics, 20(2), 135-140.

Carrier detection in sanfilippo syndrome type B : Report of six families. / Vance, Jeffery M; Conneally, P. M.; Wappner, R. S.; Yu, P. L.; Brandt, I. K.; Pericak-Vance, Margaret A.

In: Clinical Genetics, Vol. 20, No. 2, 29.12.1981, p. 135-140.

Research output: Contribution to journalArticle

Vance, JM, Conneally, PM, Wappner, RS, Yu, PL, Brandt, IK & Pericak-Vance, MA 1981, 'Carrier detection in sanfilippo syndrome type B: Report of six families', Clinical Genetics, vol. 20, no. 2, pp. 135-140.
Vance JM, Conneally PM, Wappner RS, Yu PL, Brandt IK, Pericak-Vance MA. Carrier detection in sanfilippo syndrome type B: Report of six families. Clinical Genetics. 1981 Dec 29;20(2):135-140.
Vance, Jeffery M ; Conneally, P. M. ; Wappner, R. S. ; Yu, P. L. ; Brandt, I. K. ; Pericak-Vance, Margaret A. / Carrier detection in sanfilippo syndrome type B : Report of six families. In: Clinical Genetics. 1981 ; Vol. 20, No. 2. pp. 135-140.
@article{1139185126a248b59732de73d2f71ffc,
title = "Carrier detection in sanfilippo syndrome type B: Report of six families",
abstract = "Serum samples from 175 individuals in six Sanfilippo syndrome type B (SFB) families and 360 White controls were assayed for serum α-N-acetyl-D-glucosaminidase (NAG) activity. Only minimal overlap was observed between the controls' NAG activity distribution and that of the 12 obligate heterozygotes. The distribution of NAG activity was log transformed to reduce skewness, and segregation of family members with a prior risk of being a SFB carrier was well within expected limits. However, in one consanguineous family the NAG activity of both parents of one SFB obligate heterozygote was within the normal range for NAG activity. Plausible explanations for this finding are discussed. Additionally, the serum NAG activity of one control and her mother were found to lie within one standard deviation of the obligate heterozygote mean. These individuals are most probably carriers for SFB.",
author = "Vance, {Jeffery M} and Conneally, {P. M.} and Wappner, {R. S.} and Yu, {P. L.} and Brandt, {I. K.} and Pericak-Vance, {Margaret A}",
year = "1981",
month = "12",
day = "29",
language = "English",
volume = "20",
pages = "135--140",
journal = "Clinical Genetics",
issn = "0009-9163",
publisher = "Wiley-Blackwell",
number = "2",

}

TY - JOUR

T1 - Carrier detection in sanfilippo syndrome type B

T2 - Report of six families

AU - Vance, Jeffery M

AU - Conneally, P. M.

AU - Wappner, R. S.

AU - Yu, P. L.

AU - Brandt, I. K.

AU - Pericak-Vance, Margaret A

PY - 1981/12/29

Y1 - 1981/12/29

N2 - Serum samples from 175 individuals in six Sanfilippo syndrome type B (SFB) families and 360 White controls were assayed for serum α-N-acetyl-D-glucosaminidase (NAG) activity. Only minimal overlap was observed between the controls' NAG activity distribution and that of the 12 obligate heterozygotes. The distribution of NAG activity was log transformed to reduce skewness, and segregation of family members with a prior risk of being a SFB carrier was well within expected limits. However, in one consanguineous family the NAG activity of both parents of one SFB obligate heterozygote was within the normal range for NAG activity. Plausible explanations for this finding are discussed. Additionally, the serum NAG activity of one control and her mother were found to lie within one standard deviation of the obligate heterozygote mean. These individuals are most probably carriers for SFB.

AB - Serum samples from 175 individuals in six Sanfilippo syndrome type B (SFB) families and 360 White controls were assayed for serum α-N-acetyl-D-glucosaminidase (NAG) activity. Only minimal overlap was observed between the controls' NAG activity distribution and that of the 12 obligate heterozygotes. The distribution of NAG activity was log transformed to reduce skewness, and segregation of family members with a prior risk of being a SFB carrier was well within expected limits. However, in one consanguineous family the NAG activity of both parents of one SFB obligate heterozygote was within the normal range for NAG activity. Plausible explanations for this finding are discussed. Additionally, the serum NAG activity of one control and her mother were found to lie within one standard deviation of the obligate heterozygote mean. These individuals are most probably carriers for SFB.

UR - http://www.scopus.com/inward/record.url?scp=0019496361&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0019496361&partnerID=8YFLogxK

M3 - Article

VL - 20

SP - 135

EP - 140

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

IS - 2

ER -