Adult presentation of X-linked Conradi-Hünermann-Happle syndrome

Jennifer E. Posey, Lindsay C. Burrage, Philippe M. Campeau, James T. Lu, Tanya N. Eble, Lisa Kratz, Alan E. Schlesinger, Richard A. Gibbs, Brendan H. Lee, Sandesh C S Nagamani

Research output: Contribution to journalArticle

Abstract

Conradi-Hünermann-Happle syndrome, or X-linked dominant chondrodysplasia punctata type 2 (CDPX2), is a genodermatosis caused by mutations in EBP. While typically lethal in males, females with CDPX2 generally manifest by infancy or childhood with variable features including congenital ichthyosiform erythroderma, chondrodysplasia punctata, asymmetric shortening of the long bones, and cataracts. We present a 36-year-old female with short stature, rhizomelic and asymmetric limb shortening, severe scoliosis, a sectorial cataract, and no family history of CDPX2. Whole exome sequencing (WES) revealed a p.Arg63del mutation in EBP, and biochemical studies confirmed a diagnosis of CDPX2. Short stature in combination with ichthyosis or alopecia, cataracts, and limb shortening in an adult should prompt consideration of a diagnosis of CDPX2. As in many genetic syndromes, the hallmark features of CDPX2 in pediatric patients are not readily identifiable in adults. This demonstrates the utility of WES as a diagnostic tool in the evaluation of adults with genetic disorders.

Original languageEnglish (US)
Pages (from-to)1309-1314
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume167
Issue number6
DOIs
StatePublished - Jun 1 2015

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Chondrodysplasia Punctata
Cataract
Exome
Extremities
Mutation
Congenital Ichthyosiform Erythroderma
Ichthyosis
Alopecia
Scoliosis
Pediatrics
Bone and Bones

Keywords

  • Cataract
  • Chondrodysplasia punctata
  • EBP
  • Ichthyosis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Posey, J. E., Burrage, L. C., Campeau, P. M., Lu, J. T., Eble, T. N., Kratz, L., ... Nagamani, S. C. S. (2015). Adult presentation of X-linked Conradi-Hünermann-Happle syndrome. American Journal of Medical Genetics, Part A, 167(6), 1309-1314. DOI: 10.1002/ajmg.a.36899

Adult presentation of X-linked Conradi-Hünermann-Happle syndrome. / Posey, Jennifer E.; Burrage, Lindsay C.; Campeau, Philippe M.; Lu, James T.; Eble, Tanya N.; Kratz, Lisa; Schlesinger, Alan E.; Gibbs, Richard A.; Lee, Brendan H.; Nagamani, Sandesh C S.

In: American Journal of Medical Genetics, Part A, Vol. 167, No. 6, 01.06.2015, p. 1309-1314.

Research output: Contribution to journalArticle

Posey, JE, Burrage, LC, Campeau, PM, Lu, JT, Eble, TN, Kratz, L, Schlesinger, AE, Gibbs, RA, Lee, BH & Nagamani, SCS 2015, 'Adult presentation of X-linked Conradi-Hünermann-Happle syndrome' American Journal of Medical Genetics, Part A, vol 167, no. 6, pp. 1309-1314. DOI: 10.1002/ajmg.a.36899
Posey JE, Burrage LC, Campeau PM, Lu JT, Eble TN, Kratz L et al. Adult presentation of X-linked Conradi-Hünermann-Happle syndrome. American Journal of Medical Genetics, Part A. 2015 Jun 1;167(6):1309-1314. Available from, DOI: 10.1002/ajmg.a.36899

Posey, Jennifer E.; Burrage, Lindsay C.; Campeau, Philippe M.; Lu, James T.; Eble, Tanya N.; Kratz, Lisa; Schlesinger, Alan E.; Gibbs, Richard A.; Lee, Brendan H.; Nagamani, Sandesh C S / Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.

In: American Journal of Medical Genetics, Part A, Vol. 167, No. 6, 01.06.2015, p. 1309-1314.

Research output: Contribution to journalArticle

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