PMID- 18505455
OWN - NLM
STAT- MEDLINE
DCOM- 20081118
LR  - 20220311
IS  - 1399-0004 (Electronic)
IS  - 0009-9163 (Linking)
VI  - 74
IP  - 4
DP  - 2008 Oct
TI  - Alu-related 5q35 microdeletions in Sotos syndrome.
PG  - 384-91
LID - 10.1111/j.1399-0004.2008.01032.x [doi]
AB  - Haploinsufficiency of the NSD1 gene due to 5q35 microdeletions or intragenic 
      mutations causes Sotos syndrome (SoS). In 46 of the 49 Japanese deletion cases, 
      common deletion breakpoints were located at two flanking low copy repeats (LCRs), 
      implying that non-allelic homologous recombination (NAHR) between LCRs is the 
      major mechanism for the common deletion. In the other three cases of atypical 
      deletions, the mechanism(s) of deletions remains unanswered. We characterized the 
      atypical microdeletions using fluorescence in situ hybridization (FISH), 
      quantitative real-time polymerase chain reaction (qPCR), and Southern blot 
      hybridization. All the deletion breakpoints in the three cases were successfully 
      determined at the nucleotide level. Two deletions are 1.07 Mb (SoS19) and 1.23 Mb 
      (SoS109) in size, and another consisted of two deletions with sizes of 28 kb and 
      0.72 Mb, intervened by an intact 29-kb segment (SoS44). All deletions were 
      smaller than a typical 1.9-Mb common deletion. Alu elements were identified in 
      both deletion breakpoints in SoS19, one of deletion breakpoints in SoS109, and 
      both deletion breakpoints of the proximal 28-kb deletion in SoS44. Alu-mediated 
      NAHR is strongly suggested at least in two of atypical deletions. Finally, qPCR 
      is a very useful method to determine deletion breakpoints even in repeat-related 
      regions.
FAU - Mochizuki, J
AU  - Mochizuki J
AD  - Department of Human Genetics, Graduate School of Medicine, Yokohama City 
      University, Yokohama, Japan.
FAU - Saitsu, H
AU  - Saitsu H
FAU - Mizuguchi, T
AU  - Mizuguchi T
FAU - Nishimura, A
AU  - Nishimura A
FAU - Visser, R
AU  - Visser R
FAU - Kurotaki, N
AU  - Kurotaki N
FAU - Miyake, N
AU  - Miyake N
FAU - Unno, N
AU  - Unno N
FAU - Matsumoto, N
AU  - Matsumoto N
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20080525
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Alu Elements/*genetics
MH  - Base Sequence
MH  - Chromosomes, Human, Pair 5/*genetics
MH  - Craniofacial Abnormalities/*genetics
MH  - DNA Breaks, Double-Stranded
MH  - Growth Disorders/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/*genetics
MH  - Models, Genetic
MH  - Molecular Sequence Data
MH  - Recombination, Genetic
MH  - Sequence Deletion/*genetics
MH  - Syndrome
EDAT- 2008/05/29 09:00
MHDA- 2008/11/19 09:00
CRDT- 2008/05/29 09:00
PHST- 2008/05/29 09:00 [pubmed]
PHST- 2008/11/19 09:00 [medline]
PHST- 2008/05/29 09:00 [entrez]
AID - CGE1032 [pii]
AID - 10.1111/j.1399-0004.2008.01032.x [doi]
PST - ppublish
SO  - Clin Genet. 2008 Oct;74(4):384-91. doi: 10.1111/j.1399-0004.2008.01032.x. Epub 
      2008 May 25.