PMID- 17304550
OWN - NLM
STAT- MEDLINE
DCOM- 20070508
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 143A
IP  - 6
DP  - 2007 Mar 15
TI  - Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental 
      abnormalities.
PG  - 558-63
AB  - We report cytogenetic and molecular studies of a de novo, apparently balanced 
      t(1;3)(q32.1;q25.1) identified in a 12-year-old female (designated DGAP128) with 
      cerebral atrophy, macrocephaly seizures, and developmental delay. A combination 
      of fluorescence in situ hybridization (FISH) and Southern blot analysis 
      demonstrated disruption of a synaptotagmin gene (SYT14) at the 1q32 breakpoint. 
      Expression of SYT14 in human brain was confirmed using Northern analysis. Because 
      members of the synaptotagmin family of proteins function as sensors that link 
      changes in calcium levels with a variety of biological processes, including 
      neurotransmission and hormone-responsiveness, SYT14 is an intriguing candidate 
      gene for the abnormal development in this child. This is the first known 
      constitutional rearrangement of SYT14, and further systematic genetic analysis 
      and clinical studies of DGAP128 may offer unique insights into the role of SYT14 
      in neurodevelopment.
CI  - (c) 2007 Wiley-Liss, Inc.
FAU - Quintero-Rivera, Fabiola
AU  - Quintero-Rivera F
AD  - Center for Human Genetic Research, Massachusetts General Hospital, Boston, 
      Massachusetts, USA.
FAU - Chan, Alicia
AU  - Chan A
FAU - Donovan, Diana J
AU  - Donovan DJ
FAU - Gusella, James F
AU  - Gusella JF
FAU - Ligon, Azra H
AU  - Ligon AH
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - 134193-27-4 (Synaptotagmins)
SB  - IM
MH  - Abnormalities, Multiple/*genetics/pathology
MH  - Atrophy
MH  - Blotting, Northern
MH  - Blotting, Southern
MH  - Brain/metabolism/*pathology
MH  - Child
MH  - Chromosome Banding
MH  - Chromosome Breakage
MH  - Chromosomes, Human, Pair 1
MH  - Chromosomes, Human, Pair 3
MH  - Developmental Disabilities/pathology
MH  - Female
MH  - Gene Expression
MH  - Genetic Predisposition to Disease
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Seizures/pathology
MH  - Synaptotagmins/*genetics
MH  - *Translocation, Genetic
EDAT- 2007/02/17 09:00
MHDA- 2007/05/09 09:00
CRDT- 2007/02/17 09:00
PHST- 2007/02/17 09:00 [pubmed]
PHST- 2007/05/09 09:00 [medline]
PHST- 2007/02/17 09:00 [entrez]
AID - 10.1002/ajmg.a.31618 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2007 Mar 15;143A(6):558-63. doi: 10.1002/ajmg.a.31618.