A novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boy

Tümay Doǧanci, Berrin E. Yüksel Konuk, Nursel Alpan, Onur Konuk, Riikka H. Hämäläinen, Anna Elina Lehesjoki, Mustafa Tekin

Research output: Contribution to journalArticlepeer-review

7 Scopus citations

Abstract

Mulibrey nanism is a rare autosomal-recessive disorder characterized by prenatal onset severe growth retardation and pericardial constriction associated with abnormalities of muscle, liver, brain and eye. More than 80% of previously reported patients are of Finnish origin in whom a founder mutation in the TRIM37 gene have been described. We report on a 7-year-old Turkish boy who presented with classical phenotypic features of mulibrey nanism. Mutation screening of the TRIM37 gene revealed that the proband had a homozygous two base pair deletion, c.1894_1895delGA, resulting in a frame-shift and a premature termination codon. Our proband is one of the rare examples of mulibrey nanism outside Finland and extends the mutation spectrum in this disorder.

Original languageEnglish (US)
Pages (from-to)173-176
Number of pages4
JournalClinical Dysmorphology
Volume16
Issue number3
DOIs
StatePublished - Jul 1 2007
Externally publishedYes

Keywords

  • Constrictive pericarditis
  • Mulibrey nanism
  • Short stature
  • TRIM37

ASJC Scopus subject areas

  • Genetics(clinical)
  • Pediatrics, Perinatology, and Child Health
  • Anatomy

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