ClinVar

Description

This Xq23 deletion involves several protein coding genes including the 5-prime portion of ACSL4 (OMIM 300387), PAK3 (OMIM 300142), CHRDL1(OMIM 309300) and DCX (OMIM 300067). Loss-of-function variants in CHRDL1 are associated with X-linked megalocornea in males (OMIM 309300), which is characterized by an increased corneal diameter and deep anterior chamber evident at birth with later onset of mosaic corneal degeneration (shagreen), arcus juvenilis, and presenile cataracts. Loss-of-function variants of DCX are associated with X-linked lissencephaly (OMIM 300067) in males. In addition, loss-of-function variants of ACSL4 and PAK3, have been identified in males with different forms of X-linked intellectual developmental disorders, respectively (OMIM 300387 and 300558, also refer to Cartwright 2017). A 671 kb microdeletion of Xq23 fully contained in the current deletion interval, has been reported in a boy with microsomia, midface hypoplasia, kidney dysplasia, growth retardation and some alterations of bones and heart (Lu 2021). Please note that the clinical presentation of female carriers of an X-linked pathogenic copy number variant (CNV) depends on X-inactivation patterns. References:- Cartwright et al., Clin Dysmorphol. 2017 Jan;26(1):38-40. PMID:27753653- Lu et al., J Clin Res Pediatr Endocrinol. 2021 Feb 4. PMID: 33535730