A UNIQUE CASE OF A PATIENT WITH PARTIAL TRISOMY 22 AND LIPODYSTROPHY: IS IT A NEW SYNDROME DUE TO AN IGF-IR MUTATION?

ÇAĞLAYAN A. O., Klammt J., Kiess W., HATİPOĞLU N., Pfaeffle R., Kurtoglu S., ...More

GENETIC COUNSELING, vol.21, no.2, pp.187-197, 2010 (SCI-Expanded) identifier

  • Publication Type: Article / Article
  • Volume: 21 Issue: 2
  • Publication Date: 2010
  • Journal Name: GENETIC COUNSELING
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED)
  • Page Numbers: pp.187-197
  • Keywords: Chromosome 22, Partial trisomy, IGF-IR, MARKER CHROMOSOMES, MOSAIC TRISOMY-22, GROWTH, PHENOTYPE, RECEPTOR
  • Dokuz Eylül University Affiliated: No

Abstract

A unique case of a patient with partial trisomy 22 and lipodystrophy: is it a new syndrome due to an IGF-IR mutation?: A newborn male presented with intestinal malrotation, facial anomalies, hypertrichosis, hypertrophic, hyperpigmented nipples and enlarged genitals with a hyperpigmented scrotum. In addition, the patient displayed a marked lipodystrophy of trunk and limbs. His karyotype demonstrated a small supernumerary NOR-positive marker chromosome that was subsequently identified as del(22)(q12 -> qter). This extra structurally abnormal chromosome probably derives from a maternal balanced translocation, which was found by karyotype analysis of the mother. The patient's growth hormone (OH) serum levels were elevated, whereas serum insulin-like growth factor 1 (IGF-I) was almost undetectable. Molecular genetic analysis of the IGF-I and type 1 IGF receptor (IGF-IR) genes revealed a heterozygous mutation within exon 21 of the IGF-IR (Pro 1257Ser). Findings in our patient correlate to a large extent with partial trisomy 22. Phenotypic variation from classical partial trisomy 22 syndrome may lie within the variability of this syndrome, originate from disturbances within the GH-IGF/IGF-IR axis or, alternatively, reflect the pathogenesis of a new syndrome due to the synergistical impact of the combination of the genetic aberrations. Additional studies are necessary to confirm or refute this hypothesis.