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A novel locus for ectodermal dysplasia of hairs, nails and teeth type maps to chromosome 18q22.1-22.3.
Ann Hum Genet. 2008 Jan; 72(Pt 1):19-25.AH

Abstract

Ectodermal dysplasias (EDs) are developmental disorders affecting tissues of ectodermal origin including hair, nails, teeth and sweat glands. Ectodermal dysplasia of hair, nails and teeth is a rare type of congenital disorder characterized by sparse and thin hair, dystrophic finger-and toenails and missing and abnormal teeth. In an effort to understand the molecular basis of this form of ED a family of Pakistani origin with an autosomal recessive pattern of inheritance was ascertained from a remote region in Pakistan. The clinical features of the affected individuals included thin and fine hair on the scalp, dystrophic and flat nails, absent or sparse eyebrows and eyelashes, missing and abnormal teeth, and thin body hair. A human genome scan carried out using microsatellite markers mapped the disease locus in this family to chromosome 18q22.1-18q22.3. A maximum two-point LOD score of 2.73 (theta= 0.0) was obtained at marker D18S541. Multipoint linkage analysis resulted in a maximum LOD score of 3.42 obtained with several markers, including D18S1125, ATA82B02, D18S848, D18S488, D18S1091, and D18S485, which supported the linkage. The linkage interval is flanked by markers D18S857 and D18S815, which corresponds to a region of 17.32 cM according to Rutgers combined linkage and physical map (build 36). This region covers 8.63 Mb according to the sequence-based physical map. Three candidate genes, CDH7, CDH19 and ZNF407, from the linkage interval were sequenced and found to be negative for functional sequence variants. This study is the first step towards the identification of a gene involved in hair, nails and teeth type ED.

Authors+Show Affiliations

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.No 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

18184143

Citation

Tariq, M, et al. "A Novel Locus for Ectodermal Dysplasia of Hairs, Nails and Teeth Type Maps to Chromosome 18q22.1-22.3." Annals of Human Genetics, vol. 72, no. Pt 1, 2008, pp. 19-25.
Tariq M, Chishti MS, Ali G, et al. A novel locus for ectodermal dysplasia of hairs, nails and teeth type maps to chromosome 18q22.1-22.3. Ann Hum Genet. 2008;72(Pt 1):19-25.
Tariq, M., Chishti, M. S., Ali, G., & Ahmad, W. (2008). A novel locus for ectodermal dysplasia of hairs, nails and teeth type maps to chromosome 18q22.1-22.3. Annals of Human Genetics, 72(Pt 1), 19-25. https://doi.org/10.1111/j.1469-1809.2007.00391.x
Tariq M, et al. A Novel Locus for Ectodermal Dysplasia of Hairs, Nails and Teeth Type Maps to Chromosome 18q22.1-22.3. Ann Hum Genet. 2008;72(Pt 1):19-25. PubMed PMID: 18184143.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel locus for ectodermal dysplasia of hairs, nails and teeth type maps to chromosome 18q22.1-22.3. AU - Tariq,M, AU - Chishti,M S, AU - Ali,G, AU - Ahmad,W, PY - 2008/1/11/pubmed PY - 2008/3/19/medline PY - 2008/1/11/entrez SP - 19 EP - 25 JF - Annals of human genetics JO - Ann. Hum. Genet. VL - 72 IS - Pt 1 N2 - Ectodermal dysplasias (EDs) are developmental disorders affecting tissues of ectodermal origin including hair, nails, teeth and sweat glands. Ectodermal dysplasia of hair, nails and teeth is a rare type of congenital disorder characterized by sparse and thin hair, dystrophic finger-and toenails and missing and abnormal teeth. In an effort to understand the molecular basis of this form of ED a family of Pakistani origin with an autosomal recessive pattern of inheritance was ascertained from a remote region in Pakistan. The clinical features of the affected individuals included thin and fine hair on the scalp, dystrophic and flat nails, absent or sparse eyebrows and eyelashes, missing and abnormal teeth, and thin body hair. A human genome scan carried out using microsatellite markers mapped the disease locus in this family to chromosome 18q22.1-18q22.3. A maximum two-point LOD score of 2.73 (theta= 0.0) was obtained at marker D18S541. Multipoint linkage analysis resulted in a maximum LOD score of 3.42 obtained with several markers, including D18S1125, ATA82B02, D18S848, D18S488, D18S1091, and D18S485, which supported the linkage. The linkage interval is flanked by markers D18S857 and D18S815, which corresponds to a region of 17.32 cM according to Rutgers combined linkage and physical map (build 36). This region covers 8.63 Mb according to the sequence-based physical map. Three candidate genes, CDH7, CDH19 and ZNF407, from the linkage interval were sequenced and found to be negative for functional sequence variants. This study is the first step towards the identification of a gene involved in hair, nails and teeth type ED. SN - 0003-4800 UR - https://wwww.unboundmedicine.com/medline/citation/18184143/A_novel_locus_for_ectodermal_dysplasia_of_hairs_nails_and_teeth_type_maps_to_chromosome_18q22_1_22_3_ L2 - https://doi.org/10.1111/j.1469-1809.2007.00391.x DB - PRIME DP - Unbound Medicine ER -