TY - JOUR
T1 - Adult presentation of X-linked Conradi-Hünermann-Happle syndrome
AU - Posey, Jennifer E.
AU - Burrage, Lindsay C.
AU - Campeau, Philippe M.
AU - Lu, James T.
AU - Eble, Tanya N.
AU - Kratz, Lisa
AU - Schlesinger, Alan E.
AU - Gibbs, Richard A.
AU - Lee, Brendan H.
AU - Nagamani, Sandesh C.S.
N1 - Publisher Copyright:
© 2015 Wiley Periodicals, Inc.
PY - 2015/6/1
Y1 - 2015/6/1
N2 - 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.
AB - 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.
KW - Cataract
KW - Chondrodysplasia punctata
KW - EBP
KW - Ichthyosis
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U2 - 10.1002/ajmg.a.36899
DO - 10.1002/ajmg.a.36899
M3 - Article
C2 - 25846959
AN - SCOPUS:84929950418
SN - 1552-4825
VL - 167
SP - 1309
EP - 1314
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 6
ER -