Skip to main content
Fig. 2 | BMC Medical Genomics

Fig. 2

From: MPZL2—a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population

Fig. 2

A Family tree of eight inherited HL pedigrees caused by bi-allelic variants of MPZL2. A-H The pedigree trees of Family 1 to Family 8, respectively. Six pathogenic or likely pathogenic variants including four in MPZL2 and two in GJB2 were identified in these families. All patients, except III-1 in Family 1, carried bi-allelic MPZL2 variants. The variant of III-1 in Family 1 was identified as a carrier of MPZL2:c.220C > T(p.Gln74*) and compound heterozygotes of GJB2 c.109G > A/c.235delC, suggesting that her HL is caused by GJB2 mutations

Back to article page

BMC Medical Genomics

ISSN: 1755-8794

Contact us