Maternal uniparental disomy of chromosome 15 and concomitant STRC and CATSPER2 deletion-mediated deafness-infertility syndrome

Am J Med Genet A. 2017 May;173(5):1436-1439. doi: 10.1002/ajmg.a.38154. Epub 2017 Mar 20.
No abstract available

Keywords: CATSPER2; Prader-Willi syndrome; STRC; chromosome 15; deafness-infertility syndrome; uniparental disomy.

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural

MeSH terms

  • Calcium Channels / genetics*
  • Chromosome Deletion
  • Chromosome Mapping
  • Chromosomes, Human, Pair 15 / genetics
  • Gene Deletion*
  • Hearing Loss, Sensorineural / complications*
  • Hearing Loss, Sensorineural / diagnosis
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant, Newborn
  • Infertility, Male / complications*
  • Infertility, Male / diagnosis
  • Infertility, Male / genetics*
  • Intercellular Signaling Peptides and Proteins
  • Male
  • Membrane Proteins / genetics*
  • Oligonucleotide Array Sequence Analysis
  • Prader-Willi Syndrome / complications*
  • Prader-Willi Syndrome / diagnosis
  • Prader-Willi Syndrome / genetics*
  • Seminal Plasma Proteins / genetics*

Substances

  • CATSPER2 protein, human
  • Calcium Channels
  • Intercellular Signaling Peptides and Proteins
  • Membrane Proteins
  • STRC protein, human
  • Seminal Plasma Proteins

Supplementary concepts

  • Deafness, Sensorineural, And Male Infertility