Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD

Fortunato Lonardo, Giancarlo Parenti, Daniela Varela Luquetti, Ida Annunziata, Matteo Della Monica, Lucia Perone, Manuela De Gregori, Orsetta Zuffardi, Nicola Brunetti-Pierri, Generoso Andria, Gioacchino Scarano

Research output: Contribution to journalArticlepeer-review

Abstract

Microdeletions of Xp22.3 can result in contiguous gene syndromes, showing the variable association of apparently unrelated clinical manifestations such as ichthyosis, chondrodysplasia punctata, hypogonadotropic hypogonadism, anosmia, ocular albinism, short stature and mental retardation. We report on a boy with ichthyosis, dysmorphic features and mental retardation with ADHD. The patient was born at term after a pregnancy complicated by threatened abortion; decreased fetal movements and low estriol serum levels were reported during the last trimester. The boy was referred to us at the age of 13 years. He presented with aggressive and hyperactive behavior. He had dry hair, a flat face, bilateral lens opacities, a small nose with hypoplastic tip, alae nasi and nares, a high-arched palate with a very small cleft, mixed dentition with 7 unerupted permanent teeth, left sensorineural and right mixed hearing loss with a calcified plaque of the tympanic membrane, marked shortness of terminal phalanges of hands and feet, ichthyosis of trunk and limbs. The genomic interval between AFM248th5 and KAL1 was investigated. PCR analysis showed a deletion in Xp22.3, with the distal breakpoint between the marker AFM248th5 and PABX and the proximal one between DXS278 and KAL1. Array-CGH and FISH analysis confirmed the interstitial deletion (of about 5.5 Mb) and refined the breakpoints. We discuss the phenotype of our patient in relationship to the deleted segment and the possibility of mental retardation and ADHD genes in the region.

Original languageEnglish
Pages (from-to)301-308
Number of pages8
JournalEuropean Journal of Medical Genetics
Volume50
Issue number4
DOIs
Publication statusPublished - Jul 2007

Keywords

  • ADHD
  • Chondrodysplasia punctata
  • Contiguous gene syndrome
  • Ichthyosis
  • Xp22.3 microdeletion

ASJC Scopus subject areas

  • Genetics

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