Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome

被引:101
作者
Liburd, N
Ghosh, M
Riazuddin, S
Naz, S
Khan, S
Ahmed, Z
Riazuddin, S
Liang, Y
Menon, PSN
Smith, T
Smith, ACM
Chen, KS
Lupski, JR
Wilcox, ER
Potocki, L
Friedman, TB
机构
[1] Natl Inst Deafness & Other Commun Disorders, Genet Mol Lab, NIH, Rockville, MD 20850 USA
[2] All India Inst Med Sci, Dept Pediat, Genet Unit, New Delhi, India
[3] Ctr Excellence Mol Biol, Lahore, Pakistan
[4] NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA
[5] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[6] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA
[7] Texas Childrens Hosp, Houston, TX 77030 USA
关键词
D O I
10.1007/s004390100604
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Mutations in myosin XVA are responsible for the shaker 2 (sh2) phenotype in mice and nonsyndromic autosomal recessive profound hearing loss DFNB3 on chromosome 17p 11.2. We have ascertained seven families with profound congenital hearing loss from Pakistan and India with evidence of linkage to DFNB3 at 17p11.2. We report three novel homozygous mutations in MYO15A segregating in three of these families. In addition, one hemizygous missense mutation of MYO15A was found in one of eight Smith-Magenis syndrome (del(17)p11.2) patients from North America who had moderately severe sensorineural hearing loss.
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页码:535 / 541
页数:7
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