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Congenital nasal pyriform aperture stenosis and ocular albinism co-occurring in a sibship with a maternally-inherited 97 kb Xp22.2 microdeletion.

Authors
Type
Published Article
Journal
American Journal of Medical Genetics Part A
1552-4833
Publisher
Wiley Blackwell (John Wiley & Sons)
Publication Date
Volume
164A
Issue
5
Pages
1268–1271
Identifiers
DOI: 10.1002/ajmg.a.36415
PMID: 24478262
Source
Medline
Keywords
  • Gpr143
  • Tbl1X, Shroom2
  • Cnpas
  • Congenital Nasal Pyriform Aperture Stenosis
  • Ocular Albinism

Abstract

Congenital Nasal Pyriform Aperture Stenosis (CNPAS) is a rare congenital malformation caused by overgrowth of the maxillary bone. We report on two patients, brothers born 3 and 1½ years apart, both presented at birth with radiographically diagnosed CNPAS. Both siblings also were born with ocular albinism, which is known to have X-linked inheritance. Subsequent genetic testing demonstrated a 97 kb deletion in the p arm of the X chromosome in both siblings and their mother. This deletion encompasses a gene known to cause ocular albinism (GPR143), as well as partial deletion of two other genes, TBL1X and SHROOM2. This is the first reported case of CNPAS in siblings, both males, sharing a maternally inherited Xp22.2 deletion.

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