Bönsch D, Scheer P, Neumann C, Lang-Roth R, Seifert E, Storch P, Weiller C, Lamprecht-Dinnesen A, Deufel T
Institut für Klinische Chemie und Laboratoriumsdiagnostik, Klinikum der Universität Jena, Jena, Germany.
Eur J Hum Genet. 2001 Mar;9(3):165-70. doi: 10.1038/sj.ejhg.5200612.
Investigating a large German pedigree with non-syndromic hearing impairment of early onset and autosomal dominant mode of inheritance, linkage to known DFNA loci was excluded and in a subsequent genomic scan the phenotype was mapped to a 10-cM interval on chromosome 3q22; a maximum two-point lod score of 3.77 was obtained for the marker D3S1292. The new locus, DFNA18, is excluded from neighbouring deafness loci, DFNB15 and USH3, and it overlaps with the recently described DM2/PROMM locus. As hearing loss has been described as one feature of the PROMM phenotype, the DFNA18 gene might also be responsible for hearing loss in DM2/PROMM.
对一个患有早发性非综合征性听力损失且为常染色体显性遗传模式的大型德系家系进行研究时，排除了与已知DFNA位点的连锁关系，随后在基因组扫描中，该表型被定位到3号染色体q22区域的一个10厘摩区间；标记D3S1292获得的最大两点连锁值为3.77。新的位点DFNA18被排除在邻近的耳聋位点DFNB15和USH3之外，并且它与最近描述的DM2/PROMM位点重叠。由于听力损失已被描述为PROMM表型的一个特征，DFNA18基因可能也与DM2/PROMM中的听力损失有关。
