Uniparental disomy in cartilage-hair hypoplasia

Tuija Sulisalo, Outi Mäkitie, Pertti Sistonen, Maaret Ridanpää, Wael El-Rifai, Olli Ruuskanen, Albert De La Chapelle, Ilkka Kaitila

Research output: Contribution to journalArticle

37 Citations (Scopus)

Abstract

Cartilage-hair hypoplasia (CHH) is an autosomal recessive disorder that presents with pleiotropic manifestations including impaired skeletal growth and cellular immunity. It is most prevalent among two founder populations, the Old Order Amish in the USA and the Finns. The gene has been localized to 9p13 by linkage analysis and linkage disequilibrium mapping. A statistically significant deficiency of affected members resulting in a lower than expected segregation ratio has been reported in the Amish, but was not found in a previous study in Finnish CHH families. Reduced penetrance was the mechanism suggested in the Amish, but could not be verified by haplotype analyses performed after the assignment of the CHH gene. Here we have carried out segregation analysis of 101 Finnish CHH families, but again, evidence of a significant deficiency of affected members was not found. Nevertheless, among 54 uniplex families, 2 patients with CHH and uniparental disomy (UPD) for chromosome 9 were discovered. UPD might contribute to low segregation ratios by increasing the number of families with only 1 affected individual. These observations show that UPD may occur in an unexpectedly high number of the patients and should be taken into account in the genetic counselling and prenatal diagnostics of CHH families.

Original languageEnglish (US)
Pages (from-to)35-42
Number of pages8
JournalEuropean Journal of Human Genetics
Volume5
Issue number1
StatePublished - Jan 1 1997
Externally publishedYes

Fingerprint

Uniparental Disomy
Amish
Chromosomes, Human, Pair 9
Penetrance
Chromosome Mapping
Linkage Disequilibrium
Genetic Counseling
Cellular Immunity
Haplotypes
Genes
Cartilage-hair hypoplasia
Growth
Population

Keywords

  • Cartilage-hair hypoplasia
  • Chromosome 9
  • Segregation analysis
  • Uniparental disomy

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Sulisalo, T., Mäkitie, O., Sistonen, P., Ridanpää, M., El-Rifai, W., Ruuskanen, O., ... Kaitila, I. (1997). Uniparental disomy in cartilage-hair hypoplasia. European Journal of Human Genetics, 5(1), 35-42.

Uniparental disomy in cartilage-hair hypoplasia. / Sulisalo, Tuija; Mäkitie, Outi; Sistonen, Pertti; Ridanpää, Maaret; El-Rifai, Wael; Ruuskanen, Olli; De La Chapelle, Albert; Kaitila, Ilkka.

In: European Journal of Human Genetics, Vol. 5, No. 1, 01.01.1997, p. 35-42.

Research output: Contribution to journalArticle

Sulisalo, T, Mäkitie, O, Sistonen, P, Ridanpää, M, El-Rifai, W, Ruuskanen, O, De La Chapelle, A & Kaitila, I 1997, 'Uniparental disomy in cartilage-hair hypoplasia', European Journal of Human Genetics, vol. 5, no. 1, pp. 35-42.
Sulisalo T, Mäkitie O, Sistonen P, Ridanpää M, El-Rifai W, Ruuskanen O et al. Uniparental disomy in cartilage-hair hypoplasia. European Journal of Human Genetics. 1997 Jan 1;5(1):35-42.
Sulisalo, Tuija ; Mäkitie, Outi ; Sistonen, Pertti ; Ridanpää, Maaret ; El-Rifai, Wael ; Ruuskanen, Olli ; De La Chapelle, Albert ; Kaitila, Ilkka. / Uniparental disomy in cartilage-hair hypoplasia. In: European Journal of Human Genetics. 1997 ; Vol. 5, No. 1. pp. 35-42.
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