PMID- 12124731
OWN - NLM
STAT- MEDLINE
DCOM- 20030108
LR  - 20111117
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 111
IP  - 1
DP  - 2002 Jul 22
TI  - Maternal isodisomy for 14q21-q24 in a man with diabetes mellitus.
PG  - 38-42
AB  - We report a 20-year-old man with maternal uniparental disomy for chromosome 14 
      (UPD14) and maturity-onset diabetes mellitus (DM). He had pre- and postnatal 
      growth retardation, developed DM at age 20 years without any autoimmune 
      antibodies, and had a mosaic 
      45,XY,der(14;14)(q10;q10)[129]/46,XY,+14,der(14;14)(q10;q10)[1] karyotype. 
      Allelotyping using microsatellite markers covering the entire 14q indicated 
      segmental maternal isodisomy for 14q21-q24 and maternal heterodisomy of the 
      remaining regions of the chromosome. It is thus tempting to speculate that the 
      segmental isodisomy led to reduction to homozygosity for a mutant gene and thus 
      caused his DM, although the possibility of coincidental occurrence of the two 
      events cannot totally be ruled out. Fluorescence in situ hybridization (FISH) 
      analysis using BAC clone probes revealed that the isodisomic segment did not 
      overlap any known IDDM or NIDDM susceptibility loci on chromosome 14, suggesting 
      a novel locus for a subset of DM at the isodisomic segment.
CI  - Copyright 2002 Wiley-Liss, Inc.
FAU - Kayashima, Tomohiko
AU  - Kayashima T
AD  - Department of Human Genetics, Nagasaki University, Japan. 
      d399022y@stcc.nagasaki-u.ac.jp
FAU - Katahira, Masahito
AU  - Katahira M
FAU - Harada, Naoki
AU  - Harada N
FAU - Miwa, Nobutomo
AU  - Miwa N
FAU - Ohta, Tohru
AU  - Ohta T
FAU - Yoshiura, Koh-Ichiro
AU  - Yoshiura K
FAU - Matsumoto, Naomichi
AU  - Matsumoto N
FAU - Nakane, Yoshibumi
AU  - Nakane Y
FAU - Nakamura, Yusuke
AU  - Nakamura Y
FAU - Kajii, Tadashi
AU  - Kajii T
FAU - Niikawa, Norio
AU  - Niikawa N
FAU - Kishino, Tatsuya
AU  - Kishino T
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Adult
MH  - Chromosomes, Human, Pair 14/*genetics
MH  - Diabetes Mellitus, Type 2/*genetics
MH  - Dwarfism/*genetics
MH  - Humans
MH  - Intellectual Disability/*genetics
MH  - Karyotyping
MH  - Male
MH  - Microsatellite Repeats
MH  - Mosaicism
MH  - Obesity/genetics
MH  - Phenotype
MH  - *Uniparental Disomy
EDAT- 2002/07/19 10:00
MHDA- 2003/01/09 04:00
CRDT- 2002/07/19 10:00
PHST- 2002/07/19 10:00 [pubmed]
PHST- 2003/01/09 04:00 [medline]
PHST- 2002/07/19 10:00 [entrez]
AID - 10.1002/ajmg.10511 [doi]
PST - ppublish
SO  - Am J Med Genet. 2002 Jul 22;111(1):38-42. doi: 10.1002/ajmg.10511.