Reassignment of HMX1 indicates copy number variation within 4p16.1 may be an alternative cause of oculoauricular phenotypes

Abstract

copy number variation, 4p16.1, oculoauricular phenotypes, HMX1, evolutionarily conserved region, euchromatic variant Recessive loss of function mutations in the H6 family homeobox

A Central Role of Telomere Dysfunction in the Formation of a Unique Translocation within the Sub-Telomere Region Resulting in Duplication and Partial Trisomy

“…Children with unbalanced genomic aberrations present with variable phenotypes that include three relatively common manifestations: developmental delay, intellectual disability, and malformation of the heart [ 1 , 2 , 3 , 4 ]. Thus, precise and sensitive evaluation of these aberrations is an important challenge to clinicians offering genetic counseling to families, in particular prenatal counseling.…”

Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS

“…Indeed, RA human embryopathies present features overlapping with OAVS phenotypes (Coberly, Lammer, & A. M., 1996; Glineur et al, 1999; Lammer et al, 1985; Mondal, Shenoy, & Mishra, 2017). The genetic origin of OAVS is supported by the description of familial cases (Stoll, Viville, Treisser, & Gasser, 1998; Vendramini‐Pittoli & Kokitsu‐Nakata, 2009), and the identification of diverse chromosomal aneuploidies and few recurrent CNVs (Copy Number Variants) such as deletion 22q11.2 (Derbent et al., 2003; Dos Santos et al., 2014; Xu, Fan, & Siu, 2008) and duplication 4p16.1 (Barber, 2018; Beleza‐Meireles et al., 2015; Bragagnolo et al., 2018) in OAVS patients. Moreover, the identification of MYT1 as the first causative gene in OAVS confirms the genetic etiology (Berenguer et al., 2017; Lopez et al., 2016).…”