Duplications involving the long range HMX1 enhancer are associated with human isolated bilateral concha-type microtia.

ABSTRACT:

Background

Microtia is a congenital anomaly of ear that ranges in severity from mild structural abnormalities to complete absence of the outer ears. Concha-type microtia is considered to be a mild form. The H6 family homeobox 1 transcription factor gene (HMX1) plays an important role in craniofacial structures development. Copy number variations (CNVs) of a downstream evolutionarily conserved enhancer region (ECR) of Hmx1 associated with ear and eye abnormalities have been reported in different animals, but not yet in human. To date, no genetic defects responsible for isolated human microtia has been reported except for mutations in HOXA2. Here we recruited five Chinese families with isolated bilateral concha-type microtia, and attempt to identify the underlying genetic causes.

SUBMITTER: Si N 

PROVIDER: S-EPMC7302384 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature