Article
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss.
Human genetics - 1 Jul 2018
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
Abstract excerpt
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...
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