MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss

作者：Bademci Guney; Abad Clemer; Incesulu Armagan; Rad Abolfazl; Alper Ozgul; Kolb Susanne M; Cengiz Filiz B; Diaz Horta Oscar; Silan Fatma; Mihci Ercan; Ocak Emre; Najafi Maryam; Maroofian Reza; Yilmaz Elanur; Nur Banu G; Duman Duygu; Guo Shengru; Sant David W; Wang Gaofeng; Monje Paula V; Haaf Thomas; Blanton Susan H; Vona Barbara; Walz Katherina; Tekin Mustafa^*

来源：Human Genetics, 2018, 137(6-7): 479-486.

DOI：10.1007/s00439-018-1901-4

While recent studies have revealed a substantial portion of the genes underlying human hearing loss, the extensive genetic landscape has not been completely explored. Here, we report a loss-of-function variant (c.72delA) in MPZL2 in three unrelated multiplex families from Turkey and Iran with autosomal recessive nonsyndromic hearing loss. The variant co-segregates with moderate sensorineural hearing loss in all three families. We show a shared haplotype flanking the variant in our families implicating a single founder. While rare in other populations, the allele frequency of the variant is 0.004 in Ashkenazi Jews, suggesting that it may be an important cause of moderate hearing loss in that population. We show that Mpzl2 is expressed in mouse inner ear, and the protein localizes in the auditory inner and outer hair cells, with an asymmetric subcellular localization. We thus present MPZL2 as a novel gene associated with sensorineural hearing loss.

• 出版日期2018-7