Further clinical and molecular delineation of xp11.22 deletion syndrome: A case report

Halima Al-Shehhi, Ahlam Gabr, Intisar Al-Haddabi, Raquel Tena, Anna Baquero, Watfa Al-Maamari, Almundher Al-Maawali*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Intellectual disability (ID) is the most common diagnosis noted among children with genetic disorders. It causes social and economic burden to families and communities. The genetic causes are not completely understood, and there is significant heterogeneity. Recently, a new chromosomal X-linked syndrome was reported to cause ID. Four males were described from three families with ID, developmental delay, hypotonia, joint hypermobility, and relative macrocephaly. They all carried small, overlapping Xp11.22 deletions. To date, the described smallest region of overlapping deletion at this locus spanned ~ 430 kb) and included four genes (CENPVL1, CENPVL2, MAGED1, and GSPT2), which are proposed as the main drivers of the phenotype. We describe a male patient who matches the phenotype and contributes to defining a narrow phenocritical region at Xp11.22. We propose that GSPT2 loss-of-function might be the probable cause of the phenotypic features seen in these patients.

Original languageEnglish
Pages (from-to)460-463
Number of pages4
JournalOman Medical Journal
Volume34
Issue number5
DOIs
Publication statusPublished - Sep 2019

Keywords

  • Chromosome xp11.3 deletion syndrome
  • Gspt2 protein
  • Human
  • Human
  • Intellectual disability
  • Maged1 protein
  • Microarray analysis

ASJC Scopus subject areas

  • Medicine(all)

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