Tags

Type your tag names separated by a space and hit enter

An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family.
Eur J Hum Genet. 2000 Jun; 8(6):443-8.EJ

Abstract

We report on a three-generation Italian family with dominant transmission of a form of hereditary hypotrichosis simplex (HHS). The nine affected adults presented with sparse, thin and short hair. Somewhat less sparse and longer hair was observed in the two affected young children in the third generation. Reduced hair growth affected the scalp and body, although normal eyelashes, eyebrows and growth of men's beards were observed. No associated abnormality was detected and the overall psychomotor development of the affected individuals was normal. A phenotypic variation was observed amongst the family members and is suggestive of a reduced penetrance of the trait or the effect of a modifying factor. After exclusion, in our family, of linkage to loci previously described in other forms of atrichia or hypotrichosis, we performed a genome-wide linkage analysis, which resulted in a positive lod score at 18p11.32-p11.23. We defined a critical region of about 35 cM flanked by markers D18S853 and D18S40. The highest two-point lod score was obtained with the microsatellite markers D18S1376, D18S53 and D18S453 (lod score of 3.31 at theta = 0.00). The 18p11.32-p11.23 locus represents the first chromosome region shown to be associated with hereditary hypotrichosis simplex.

Authors+Show Affiliations

Institute of Medical Genetics, University of Zurich, Switzerland. baumer@medgen.unizh.chNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

10878665

Citation

Baumer, A, et al. "An Autosomal Dominant Form of Hereditary Hypotrichosis Simplex Maps to 18p11.32-p11.23 in an Italian Family." European Journal of Human Genetics : EJHG, vol. 8, no. 6, 2000, pp. 443-8.
Baumer A, Belli S, Trüeb RM, et al. An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family. Eur J Hum Genet. 2000;8(6):443-8.
Baumer, A., Belli, S., Trüeb, R. M., & Schinzel, A. (2000). An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family. European Journal of Human Genetics : EJHG, 8(6), 443-8.
Baumer A, et al. An Autosomal Dominant Form of Hereditary Hypotrichosis Simplex Maps to 18p11.32-p11.23 in an Italian Family. Eur J Hum Genet. 2000;8(6):443-8. PubMed PMID: 10878665.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family. AU - Baumer,A, AU - Belli,S, AU - Trüeb,R M, AU - Schinzel,A, PY - 2000/7/6/pubmed PY - 2000/10/21/medline PY - 2000/7/6/entrez SP - 443 EP - 8 JF - European journal of human genetics : EJHG JO - Eur J Hum Genet VL - 8 IS - 6 N2 - We report on a three-generation Italian family with dominant transmission of a form of hereditary hypotrichosis simplex (HHS). The nine affected adults presented with sparse, thin and short hair. Somewhat less sparse and longer hair was observed in the two affected young children in the third generation. Reduced hair growth affected the scalp and body, although normal eyelashes, eyebrows and growth of men's beards were observed. No associated abnormality was detected and the overall psychomotor development of the affected individuals was normal. A phenotypic variation was observed amongst the family members and is suggestive of a reduced penetrance of the trait or the effect of a modifying factor. After exclusion, in our family, of linkage to loci previously described in other forms of atrichia or hypotrichosis, we performed a genome-wide linkage analysis, which resulted in a positive lod score at 18p11.32-p11.23. We defined a critical region of about 35 cM flanked by markers D18S853 and D18S40. The highest two-point lod score was obtained with the microsatellite markers D18S1376, D18S53 and D18S453 (lod score of 3.31 at theta = 0.00). The 18p11.32-p11.23 locus represents the first chromosome region shown to be associated with hereditary hypotrichosis simplex. SN - 1018-4813 UR - https://wwww.unboundmedicine.com/medline/citation/10878665/An_autosomal_dominant_form_of_hereditary_hypotrichosis_simplex_maps_to_18p11_32_p11_23_in_an_Italian_family_ L2 - http://www.diseaseinfosearch.org/result/3703 DB - PRIME DP - Unbound Medicine ER -