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HETEROGENEITY (II) Locus heterogeneity Disorder is caused by defects which can occur at several different loci Inheritance patterns may differ for different loci Extent of familial or nonfamilial variation in phenotype may be locus specific Often identified because of complementation COMPLEMENTATION HETEROGENEITY (II) Locus heterogeneity Common in syndromes that result from failure in a complex pathway HETEROGENEITY (II) Locus heterogeneity Disorder is caused by defects which can occur at several different loci – Hereditary deafness > ~ 50 loci mapped • large number of different loci with recessive, dominant, X-linked and polygenic forms of the disorder – DIFFERENT FORMS CAUSE DEAFNESS IN DIFFERENT WAYS Van Camp, G.; Willems, P. J.; Smith, R. J. H. : Nonsyndromic hearing impairment: unparalleled heterogeneity. – Am. J. Hum. Genet. 60: 758-764, 1997. X-linked > 6 loci Deafness, X-linked 6, Progressive; DFN6 – Xp22 Deafness, X-linked 4, Congenital Sensorineural; DFN4 – Xp21.2 Deafness, Conductive, With Stapes Fixation; DFN3 – Xq21.1 Deafness, X-linked 1, Progressive; DFN1 – Xq22 DDP Deafness, X-linked 2, Perceptive Congenital; DFN2 – Xq22 Opticoacoustic Nerve Atrophy With Dementia – Xq22 TIMM8A
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Deafness, Autosomal Recessive 9; DFNB9 – 2p23-p22 otoferlin Deafness, Autosomal Recessive 27; DFNB27 – 2q23-q31 Deafness, Neurosensory, Autosomal Recessive 6; DFNB6 – 3p21-p14 Deafness, Autosomal Recessive 15; DFNB15 –3q Autosomal Recessive - > 22 loci Deafness, Autosomal Recessive 26; DFNB26 – 4q31 Deafness, Neurosensory, Autosomal Recessive 4; DFNB4 – 7q31 SLC26A4 Deafness, Autosomal Recessive 14; DFNB14 – 7q31 Deafness, Neurosensory, Autosomal Recessive 17; DFNB17 – 7q31 Deafness, Autosomal Recessive 13; DFNB13 – 7q34-q36 Deafness, Neurosensory, Autosomal Recessive 7; DFNB7 – 9q13-q21 TMC1 Deafness, Autosomal Recessive 12; DFNB12 – 10q21-q22 CDH23 Deafness, Autosomal Recessive 20; DFNB20 – 11q25-qter Deafness, Neurosensory, Autosomal Recessive 2; DFNB2 – 11q13.5 MYO7A Deafness, Neurosensory, Autosomal Recessive 21; DFNB21 – 11q22-q24 TECTA Deafness, Neurosensory, Autosomal Recessive 18; DFNB18 – 11p15.1-p14 Deafness, Neurosensory, Autosomal Recessive 1; DFNB1 – 13q11-q12 GJB2 Deafness, Neurosensory, Autosomal Recessive 5; DFNB5 – 14q12 Deafness, Autosomal Recessive 16, DFNB16 – 15q15 Deafness, Neurosensory, Autosomal Recessive 3; DFNB3 – 17p11.2 - MYO15A Deafness, Childhood-onset Neurosensory, Autosomal
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