An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy.
We present a 19-year-old male with laxity of skin and joints, sparse scalp hair, facial dysmorphism, epilepsy, multiple exostoses, scoliosis, gastroesophageal reflux, cardiovascular defects, and an 8q23.3-q24.22 deletion detected by array comparative genomic hybridization. The patient was previously misdiagnosed as having Ehlers-Danlos syndrome. However, his clinical findings are in fact correlated with trichorhinophalangeal syndrome type II/Langer-Giedion syndrome and Cornelia de Lange syndrome-4. We discuss the genotype-phenotype correlation and the consequence of haploinsufficiency of TRPS1, RAD21, EXT1 and KCNQ3 in this case.
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medicine, Mackay Medical College, New Taipei City, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: cpc_mmh@yahoo.com.
Chih-Ping
CP
Chen
Shuan-Pei
SP
Lin
Yu-Peng
YP
Liu
Schu-Rern
SR
Chern
Peih-Shan
PS
Wu
Jun-Wei
JW
Su
Yu-Ting
YT
Chen
Chen-Chi
CC
Lee
Wayseen
W
Wang
D018797:Cell Cycle Proteins; D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D004268:DNA-Binding Proteins / Q000235:genetics; D003635:De Lange Syndrome / Q000235:genetics*; D004827:Epilepsy / Q000235:genetics*; D056726:Genetic Association Studies; D006801:Humans; D051659:KCNQ3 Potassium Channel / Q000235:genetics; D015826:Langer-Giedion Syndrome / Q000235:genetics*; D008297:Male; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D010750:Phosphoproteins / Q000235:genetics; D012097:Repressor Proteins; D014157:Transcription Factors / Q000235:genetics; D055815:Young Adult; D000099058:Exostosin 1
D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D051659:KCNQ3 Potassium Channel; C496916:KCNQ3 protein, human; D009687:Nuclear Proteins; D010750:Phosphoproteins; C429022:RAD21 protein, human; D012097:Repressor Proteins; C108387:TRPS1 protein, human; D014157:Transcription Factors; D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1
8q23.3–q24.22 deletion; BAC; CDLS4; CT; Cornelia de Lange syndrome-4; EDS; EXT1; Ehlers–Danlos syndrome; FISH; LGS; Langer–Giedion syndrome; NCBI; National Center for Biotechnology Information; OMIM; Online Mendelian Inheritance in Man; QF-PCR; RAD21; TRPS; TRPS1; Trichorhinophalangeal syndrome; aCGH; array comparative genomic hybridization; bacterial artificial chromosome; computed tomography; del; deletion; fluorescence in situ hybridization; quantitative fluorescent polymerase chain reaction; trichorhinophalangeal syndrome