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Fig. 1 | BMC Medical Genetics

Fig. 1

From: A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family

Fig. 1

a Two isoforms encoded by the LRTOMT gene: LRTOMT1 and LRTOMT2. LRTOMT1 starts in exon 3 and LRTOMT2 starts in exon 5. CDS regions are colored red. In this transcript of LRTOMT (NM_001145308), LRTOMT2, starts from exon 3 and ends in exon 7. b Pedigree of the family. The proband is marked by an arrow. c Pure tone audiogram of patient. Audiogram indicate sever-to-profound hearing loss in both ears. Frequency in hertz (Hz) and the hearing threshold in decibels (dB) are shown. d The electropherogram of the muatation in the patient (A1), deletion of 16 bp homozygously, in his father (A2) and his mother (A3) heterozygously. In the bottom of the electropherograms, the comparison of three sequence with refrence sequence is shown. The deleted 16 bp is shown in red box

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BMC Medical Genetics

ISSN: 1471-2350

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