Nance-Horan Syndrome: Localization Within the Region Xp21.1-Xp22.3 by Linkage Analysis

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1990 Jul 1

PMID 1971992

Citations 17

Authors

D Stambolian

R A Lewis

K Buetow

A Bond

R Nussbaum

Affiliations

Soon will be listed here.

Abstract

Nance-Horan Syndrome (NHS) or X-linked cataract-dental syndrome (MIM 302350) is a disease of unknown pathogenesis characterized by congenital cataracts and dental anomalies. We performed linkage analysis in three kindreds with NHS by using six RFLP markers between Xp11.3 and Xp22.3. Close linkage was found between NHS and polymorphic loci DXS43 (theta = 0 with lod score 2.89), DXS41 (theta = 0 with lod score 3.44), and DXS67 (theta = 0 with lod score 2.74), defined by probes pD2, p99-6, and pB24, respectively. Recombinations were found with the marker loci DXS84 (theta = .04 with lod score 4.13), DXS143 (theta = .06 with lod score 3.11) and DXS7 (theta = .09 with lod score 1.68). Multipoint linkage analysis determined the NHS locus to be linked completely to DXS41 (lod score = 7.07). Our linkage results, combined with analysis of Xp interstitial deletions, suggest that the NHS locus is located within or close to the Xp22.1-Xp22.2 region.

Citing Articles

Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families.

Guven Y, Saracoglu H, Aksakal S, Kalayci T, Altunoglu U, Uyguner Z BMC Oral Health. 2023; 23(1):314.

PMID: 37221585 PMC: 10204325. DOI: 10.1186/s12903-023-03029-4.

Identification of a novel microdeletion causative of Nance-Horan syndrome.

Lopez Martinolich M, Northrup H, Mancias P, Hillman P, Rao K, Mowrey K Mol Genet Genomic Med. 2022; 10(3):e1879.

PMID: 35122698 PMC: 8922954. DOI: 10.1002/mgg3.1879.

Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome.

Casto C, Dipasquale V, Ceravolo I, Gambadauro A, Aliberto E, Galletta K Brain Sci. 2021; 11(9).

PMID: 34573171 PMC: 8465299. DOI: 10.3390/brainsci11091150.

Oral Manifestations of Nance-Horan Syndrome: A Report of a Rare Case.

De Souza N, Chalakkal P, Martires S, Soares R Contemp Clin Dent. 2020; 10(1):174-177.

PMID: 32015664 PMC: 6975004. DOI: 10.4103/ccd.ccd_490_18.

Nance-Horan Syndrome: A Rare Case Report.

Sharma S, Datta P, Sabharwal J, Datta S Contemp Clin Dent. 2017; 8(3):469-472.

PMID: 29042737 PMC: 5644009. DOI: 10.4103/ccd.ccd_232_17.

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