Genetic Homogeneity of Cartilage-hair Hypoplasia

Overview

Journal Hum Genet

Specialty Genetics

Date 1995 Feb 1

PMID 7860061

Citations 5

Authors

T Sulisalo

I van der Burgt

D L Rimoin

J Bonaventure

D Sillence

J B Campbell

D Chitayat

C I Scott

A de la Chapelle

P Sistonen

Affiliations

Soon will be listed here.

Abstract

Cartilage-hair hypoplasia (CHH) is an autosomal recessive metaphyseal chondrodysplasia characterized by short stature and hypoplasia of the hair. Associated pleiotropic features include deficient erythrogenesis, impaired T-cell mediated immunity, Hirschsprung's disease, and an increased risk of malignancies. CHH is most prevalent among the Old Order Amish in the United States and among the Finns, but sporadic families have been described among many other populations. We have previously mapped the gene for CHH to the short arm of chromosome 9 in Finnish and Amish families. The CHH locus resides close to D9S163 within an interval of 1.5 cM flanked by D9S165 and D9S50. In order to investigate the genetic homogeneity of CHH in various populations, we studied nine families with no genealogical connections to either Amish or Finns. No recombinants were detected between the CHH gene and any of the three closest marker loci studied, suggesting that CHH in these families results from mutation(s) at the same locus as in the Amish and Finnish families.

Citing Articles

Cartilage-hair Hypoplasia Complicated with Liver Cirrhosis Due to Chronic Intrahepatic Cholestasis.

Kogami T, Uojima H, Ebato T, Bando Y, Hoshino A, Saegusa M Intern Med. 2021; 60(21):3427-3433.

PMID: 33967143 PMC: 8627820. DOI: 10.2169/internalmedicine.7483-21.

Cartilage hair hypoplasia: characteristics and orthopaedic manifestations.

Riley Jr P, Weiner D, Leighley B, Jonah D, Morton D, Strauss K J Child Orthop. 2015; 9(2):145-52.

PMID: 25764362 PMC: 4417732. DOI: 10.1007/s11832-015-0646-z.

The Finnish Disease Heritage III: the individual diseases.

Norio R Hum Genet. 2003; 112(5-6):470-526.

PMID: 12627297 DOI: 10.1007/s00439-002-0877-1.

Bone marrow transplantation in cartilage-hair hypoplasia: correction of the immunodeficiency but not of the chondrodysplasia.

Berthet F, Siegrist C, Ozsahin H, Tuchschmid P, Eich G, Superti-Furga A Eur J Pediatr. 1996; 155(4):286-90.

PMID: 8777921 DOI: 10.1007/BF02002714.

Locus homogeneity for cartilage-hair hypoplasia proven?.

Krawczak M Hum Genet. 1995; 96(3):371-2.

PMID: 7649562 DOI: 10.1007/BF00210429.

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