Biochemical and genetic analysis of a child with cystic fibrosis and cystinosis

M. L. Smith, O. L. Pellett, T. C. Cahill, D. N. David, Frederick J. Kaskel, L. A. Smolin, A. A. Greene, K. Weissbecker, M. Dean, J. A. Schneider

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

We have studied a child with cystic fibrosis (CF), nephropathic cystinosis, and manifestations of Bartter syndrome, a finding reported previously in both of these diseases (CF and cystinosis). The chance of an individual inheriting a mutant allele for both CF and cystinosis from each of his parents by independent segregation is very small. Therefore, other mechanisms of inheritance were investigated, including whether his diseases were caused by a chromosome deletion or rearrangement that caused defects in both genes, whether his phenotype was caused by a new mutation or variant of either disease, or whether both diseases were inherited together due to inheritance of 2 copies of the same chromosome from one of the parents (uniparental disomy). An investigation was made of whether having mutations for both CF and cystinosis resulted in a different phenotype for either disease and whether the child was a heterozygote rather than a homozygote for one of the mutations. The results suggest that neither disease influenced the expression of the defect in the other and that this child inherited a mutant allele for both diseases independently from each parent.

Original languageEnglish (US)
Pages (from-to)84-90
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume39
Issue number1
StatePublished - 1991
Externally publishedYes

Fingerprint

Cystinosis
Cystic Fibrosis
Molecular Biology
Mutation
Parents
Alleles
Uniparental Disomy
Bartter Syndrome
Phenotype
Chromosome Deletion
Homozygote
Heterozygote
Chromosomes

Keywords

  • autosomal recessive inheritance
  • Bartter syndrome
  • linkage analysis

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Smith, M. L., Pellett, O. L., Cahill, T. C., David, D. N., Kaskel, F. J., Smolin, L. A., ... Schneider, J. A. (1991). Biochemical and genetic analysis of a child with cystic fibrosis and cystinosis. American Journal of Medical Genetics, 39(1), 84-90.

Biochemical and genetic analysis of a child with cystic fibrosis and cystinosis. / Smith, M. L.; Pellett, O. L.; Cahill, T. C.; David, D. N.; Kaskel, Frederick J.; Smolin, L. A.; Greene, A. A.; Weissbecker, K.; Dean, M.; Schneider, J. A.

In: American Journal of Medical Genetics, Vol. 39, No. 1, 1991, p. 84-90.

Research output: Contribution to journalArticle

Smith, ML, Pellett, OL, Cahill, TC, David, DN, Kaskel, FJ, Smolin, LA, Greene, AA, Weissbecker, K, Dean, M & Schneider, JA 1991, 'Biochemical and genetic analysis of a child with cystic fibrosis and cystinosis', American Journal of Medical Genetics, vol. 39, no. 1, pp. 84-90.
Smith, M. L. ; Pellett, O. L. ; Cahill, T. C. ; David, D. N. ; Kaskel, Frederick J. ; Smolin, L. A. ; Greene, A. A. ; Weissbecker, K. ; Dean, M. ; Schneider, J. A. / Biochemical and genetic analysis of a child with cystic fibrosis and cystinosis. In: American Journal of Medical Genetics. 1991 ; Vol. 39, No. 1. pp. 84-90.
@article{bcff0c9f76d845f1aa41bd1974db0940,
title = "Biochemical and genetic analysis of a child with cystic fibrosis and cystinosis",
abstract = "We have studied a child with cystic fibrosis (CF), nephropathic cystinosis, and manifestations of Bartter syndrome, a finding reported previously in both of these diseases (CF and cystinosis). The chance of an individual inheriting a mutant allele for both CF and cystinosis from each of his parents by independent segregation is very small. Therefore, other mechanisms of inheritance were investigated, including whether his diseases were caused by a chromosome deletion or rearrangement that caused defects in both genes, whether his phenotype was caused by a new mutation or variant of either disease, or whether both diseases were inherited together due to inheritance of 2 copies of the same chromosome from one of the parents (uniparental disomy). An investigation was made of whether having mutations for both CF and cystinosis resulted in a different phenotype for either disease and whether the child was a heterozygote rather than a homozygote for one of the mutations. The results suggest that neither disease influenced the expression of the defect in the other and that this child inherited a mutant allele for both diseases independently from each parent.",
keywords = "autosomal recessive inheritance, Bartter syndrome, linkage analysis",
author = "Smith, {M. L.} and Pellett, {O. L.} and Cahill, {T. C.} and David, {D. N.} and Kaskel, {Frederick J.} and Smolin, {L. A.} and Greene, {A. A.} and K. Weissbecker and M. Dean and Schneider, {J. A.}",
year = "1991",
language = "English (US)",
volume = "39",
pages = "84--90",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "1",

}

TY - JOUR

T1 - Biochemical and genetic analysis of a child with cystic fibrosis and cystinosis

AU - Smith, M. L.

AU - Pellett, O. L.

AU - Cahill, T. C.

AU - David, D. N.

AU - Kaskel, Frederick J.

AU - Smolin, L. A.

AU - Greene, A. A.

AU - Weissbecker, K.

AU - Dean, M.

AU - Schneider, J. A.

PY - 1991

Y1 - 1991

N2 - We have studied a child with cystic fibrosis (CF), nephropathic cystinosis, and manifestations of Bartter syndrome, a finding reported previously in both of these diseases (CF and cystinosis). The chance of an individual inheriting a mutant allele for both CF and cystinosis from each of his parents by independent segregation is very small. Therefore, other mechanisms of inheritance were investigated, including whether his diseases were caused by a chromosome deletion or rearrangement that caused defects in both genes, whether his phenotype was caused by a new mutation or variant of either disease, or whether both diseases were inherited together due to inheritance of 2 copies of the same chromosome from one of the parents (uniparental disomy). An investigation was made of whether having mutations for both CF and cystinosis resulted in a different phenotype for either disease and whether the child was a heterozygote rather than a homozygote for one of the mutations. The results suggest that neither disease influenced the expression of the defect in the other and that this child inherited a mutant allele for both diseases independently from each parent.

AB - We have studied a child with cystic fibrosis (CF), nephropathic cystinosis, and manifestations of Bartter syndrome, a finding reported previously in both of these diseases (CF and cystinosis). The chance of an individual inheriting a mutant allele for both CF and cystinosis from each of his parents by independent segregation is very small. Therefore, other mechanisms of inheritance were investigated, including whether his diseases were caused by a chromosome deletion or rearrangement that caused defects in both genes, whether his phenotype was caused by a new mutation or variant of either disease, or whether both diseases were inherited together due to inheritance of 2 copies of the same chromosome from one of the parents (uniparental disomy). An investigation was made of whether having mutations for both CF and cystinosis resulted in a different phenotype for either disease and whether the child was a heterozygote rather than a homozygote for one of the mutations. The results suggest that neither disease influenced the expression of the defect in the other and that this child inherited a mutant allele for both diseases independently from each parent.

KW - autosomal recessive inheritance

KW - Bartter syndrome

KW - linkage analysis

UR - http://www.scopus.com/inward/record.url?scp=0025810789&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0025810789&partnerID=8YFLogxK

M3 - Article

C2 - 1867269

AN - SCOPUS:0025810789

VL - 39

SP - 84

EP - 90

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 1

ER -