PMID- 9147638
OWN - NLM
STAT- MEDLINE
DCOM- 19970515
LR  - 20190512
IS  - 0964-6906 (Print)
IS  - 0964-6906 (Linking)
VI  - 6
IP  - 3
DP  - 1997 Mar
TI  - Disruption of the clathrin heavy chain-like gene (CLTCL) associated with features 
      of DGS/VCFS: a balanced (21;22)(p12;q11) translocation.
PG  - 357-67
AB  - The smallest region of deletion overlap in the patients we have studied defines a 
      DIGeorge syndrome/velocardiofacial syndrome (DGS/VCFS) minimal critical region 
      (MDGCR) of approximately 250 kb within 22q11. A de novo constitutional balanced 
      translocation has been identified within the MDGCR. The patient has some features 
      which have been reported in individuals with DGS/VCFS, including: facial 
      dysmorphia, mental retardation, long slender digits and genital anomalies. We 
      have cloned the breakpoint of his translocation and shown that it interrupts the 
      clathrin heavy chain-like gene (CLTCL) within the MDGCR. The breakpoint of the 
      translocation partner is in a repeated region telomeric to the rDNA cluster on 
      chromosome 21p. Therefore, it is unlikely that the patient's findings are caused 
      by interruption of sequences on 21p. The chromosome 22 breakpoint disrupts the 3' 
      coding region of the CLTCL gene and leads to a truncated transcript, strongly 
      suggesting a role for this gene in the features found in this patient. Further, 
      the patient's partial DGS/VCFS phenotype suggests that additional features of 
      DGS/VCFS may be attributed to other genes in the MDGCR. Thus, haploinsufficiency 
      for more than one gene in the MDGCR may be etiologic for DGS/VCFS.
FAU - Holmes, S E
AU  - Holmes SE
AD  - Division of Human Genetics and Molecular Biology, Children's Hospital of 
      Philadelphia, PA 19104, USA.
FAU - Riazi, M A
AU  - Riazi MA
FAU - Gong, W
AU  - Gong W
FAU - McDermid, H E
AU  - McDermid HE
FAU - Sellinger, B T
AU  - Sellinger BT
FAU - Hua, A
AU  - Hua A
FAU - Chen, F
AU  - Chen F
FAU - Wang, Z
AU  - Wang Z
FAU - Zhang, G
AU  - Zhang G
FAU - Roe, B
AU  - Roe B
FAU - Gonzalez, I
AU  - Gonzalez I
FAU - McDonald-McGinn, D M
AU  - McDonald-McGinn DM
FAU - Zackai, E
AU  - Zackai E
FAU - Emanuel, B S
AU  - Emanuel BS
FAU - Budarf, M L
AU  - Budarf ML
LA  - eng
GR  - DC02027/DC/NIDCD NIH HHS/United States
GR  - HD26979/HD/NICHD NIH HHS/United States
GR  - HG00425/HG/NHGRI NIH HHS/United States
GR  - etc.
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - England
TA  - Hum Mol Genet
JT  - Human molecular genetics
JID - 9208958
RN  - 0 (Clathrin)
RN  - 114899-12-6 (Clathrin Heavy Chains)
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Base Sequence
MH  - Cells, Cultured
MH  - Child, Preschool
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 21/*genetics
MH  - Chromosomes, Human, Pair 22/*genetics
MH  - Clathrin/*genetics
MH  - Clathrin Heavy Chains
MH  - Cloning, Molecular
MH  - Craniofacial Abnormalities/genetics
MH  - DiGeorge Syndrome/*genetics
MH  - Heart Defects, Congenital/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Molecular Sequence Data
MH  - Syndrome
MH  - *Translocation, Genetic
EDAT- 1997/03/01 00:00
MHDA- 1997/03/01 00:01
CRDT- 1997/03/01 00:00
PHST- 1997/03/01 00:00 [pubmed]
PHST- 1997/03/01 00:01 [medline]
PHST- 1997/03/01 00:00 [entrez]
AID - dda057 [pii]
AID - 10.1093/hmg/6.3.357 [doi]
PST - ppublish
SO  - Hum Mol Genet. 1997 Mar;6(3):357-67. doi: 10.1093/hmg/6.3.357.