BACKGROUND: We have investigated the main genetic causes for non-syndromic hearing impairment (NSHI) in the hearing impairment individuals from the North-Eastern Romania and proposed a cost-effective diagnosis protocol. METHODS: MLPA followed by Sanger Sequencing were used for all 291 patients included in this study. RESULTS: MLPA revealed abnormal results in 141 cases (48.45%): 57 (40.5%) were c.35delG homozygous, 26 (18.44%) were c.35delG heterozygous, 14 (9.93%) were compound heterozygous and 16 (11.35%) had other types of variants. The entire coding region of GJB2 was sequenced and out of 150 patients with normal results at MLPA, 29.33% had abnormal results: variants in heterozygous state: c.71G>A (28%), c.457G>A (20%), c.269T>C (12%), c.109G>A (12%), c.100A>T (12%), c.551G>C (8%). Out of 26 patients with c.35delG in heterozygous state, 38.46% were in fact compound heterozygous. CONCLUSIONS: We identified two variants: c.109G>A and c.100A>T that have not been reported in any study from Romania. MLPA is an inexpensive, rapid and reliable technique that could be a cost-effective diagnosis method, useful for patients with hearing impairment. It can be adaptable for the mutation spectrum in every population and followed by Sanger sequencing can provide a genetic diagnosis for patients with different degrees of hearing impairment.
BACKGROUND: We have investigated the main genetic causes for non-syndromic hearing impairment (NSHI) in the hearing impairment individuals from the North-Eastern Romania and proposed a cost-effective diagnosis protocol. METHODS: MLPA followed by Sanger Sequencing were used for all 291 patients included in this study. RESULTS: MLPA revealed abnormal results in 141 cases (48.45%): 57 (40.5%) were c.35delG homozygous, 26 (18.44%) were c.35delG heterozygous, 14 (9.93%) were compound heterozygous and 16 (11.35%) had other types of variants. The entire coding region of GJB2 was sequenced and out of 150 patients with normal results at MLPA, 29.33% had abnormal results: variants in heterozygous state: c.71G>A (28%), c.457G>A (20%), c.269T>C (12%), c.109G>A (12%), c.100A>T (12%), c.551G>C (8%). Out of 26 patients with c.35delG in heterozygous state, 38.46% were in fact compound heterozygous. CONCLUSIONS: We identified two variants: c.109G>A and c.100A>T that have not been reported in any study from Romania. MLPA is an inexpensive, rapid and reliable technique that could be a cost-effective diagnosis method, useful for patients with hearing impairment. It can be adaptable for the mutation spectrum in every population and followed by Sanger sequencing can provide a genetic diagnosis for patients with different degrees of hearing impairment.
Authors: P Gasparini; R Rabionet; G Barbujani; S Melçhionda; M Petersen; K Brøndum-Nielsen; A Metspalu; E Oitmaa; M Pisano; P Fortina; L Zelante; X Estivill Journal: Eur J Hum Genet Date: 2000-01 Impact factor: 4.246
Authors: Girish V Putcha; Bassem A Bejjani; Stacey Bleoo; Jessica K Booker; John C Carey; Nancy Carson; Soma Das; Melissa A Dempsey; Julie M Gastier-Foster; John H Greinwald; Marcy L Hoffmann; Linda Jo Bone Jeng; Margaret A Kenna; Ishrag Khababa; Margaret Lilley; Rong Mao; Kasinathan Muralidharan; Iris M Otani; Heidi L Rehm; Fred Schaefer; William K Seltzer; Elaine B Spector; Michelle A Springer; Karen E Weck; Richard J Wenstrup; Stacey Withrow; Bai-Lin Wu; Maimoona A Zariwala; Iris Schrijver Journal: Genet Med Date: 2007-07 Impact factor: 8.822