PMID- 15362574
OWN - NLM
STAT- MEDLINE
DCOM- 20041021
LR  - 20211203
IS  - 1434-5161 (Print)
IS  - 1434-5161 (Linking)
VI  - 49
IP  - 5
DP  - 2004
TI  - Phenotype-genotype correlation in two patients with 12q proximal deletion.
PG  - 282-4
AB  - Proximal 12q deletion is a very rare chromosomal abnormality. Only five cases 
      have been reported. Among the five, an Argentinian patient (Case 1) with 
      del(12)(q11q13) and a Japanese patient (Case 2) with del(12)(q12q13.12) were 
      analyzed because they shared several clinical features: growth and psychomotor 
      developmental delay; strabismus; broad and short nose with anteverted nostrils; 
      high, arched palate; large, lowset ears; widely set nipples; short fingers and 
      clinodactyly of fifth fingers; and abnormality of the second and third toes. To 
      clarify the correlation between the deleted genes and their phenotypes, we 
      delimited their deleted regions by fluorescence in situ hybridization (FISH). The 
      overlapped region in the deletions spanned 6.2 Mb where at least 15 genes were 
      predicted to localize on the current human genome database. Among them, YAF2 and 
      AMIGO2 were the most plausible candidates to affect growth and psychomotor 
      retardation, respectively, in both cases. Regarding unique symptoms in each case, 
      congenital fibrosis of the extraocular muscles found only in Case 1 may be caused 
      by KIF21A deletion and hearing loss and cleft palate in Case 2 by COL2A1 defect.
FAU - Miyake, Noriko
AU  - Miyake N
AD  - Department of Human Genetics, Nagasaki University Graduate School of Biomedical 
      Sciences, 1-12-4 Sakamoto, Nagasaki 852-8523, Japan.
FAU - Tonoki, Hidefumi
AU  - Tonoki H
FAU - Gallego, Marta
AU  - Gallego M
FAU - Harada, Naoki
AU  - Harada N
FAU - Shimokawa, Osamu
AU  - Shimokawa O
FAU - Yoshiura, Koh-ichiro
AU  - Yoshiura K
FAU - Ohta, Tohru
AU  - Ohta T
FAU - Kishino, Tatsuya
AU  - Kishino T
FAU - Niikawa, Norio
AU  - Niikawa N
FAU - Matsumoto, Naomichi
AU  - Matsumoto N
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - J Hum Genet
JT  - Journal of human genetics
JID - 9808008
RN  - 0 (COL2A1 protein, human)
RN  - 0 (Collagen Type II)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (KIF21A protein, human)
RN  - 0 (Kif21a protein, mouse)
RN  - 0 (Muscle Proteins)
RN  - 0 (Nerve Tissue Proteins)
RN  - 0 (Repressor Proteins)
RN  - 0 (YAF2 protein, human)
RN  - 0 (Yaf2 protein, mouse)
RN  - EC 3.6.4.4 (Kinesins)
SB  - IM
MH  - Abnormalities, Multiple/*genetics/pathology
MH  - Child, Preschool
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 12/*genetics
MH  - Cleft Palate/pathology
MH  - Collagen Type II/genetics
MH  - DNA-Binding Proteins/genetics
MH  - Genotype
MH  - Hearing Loss/pathology
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Infant
MH  - Intellectual Disability/pathology
MH  - Kinesins/genetics
MH  - Muscle Proteins/genetics
MH  - Nerve Tissue Proteins/genetics
MH  - Phenotype
MH  - Repressor Proteins/genetics
EDAT- 2004/09/15 05:00
MHDA- 2004/10/22 09:00
CRDT- 2004/09/15 05:00
PHST- 2004/09/15 05:00 [pubmed]
PHST- 2004/10/22 09:00 [medline]
PHST- 2004/09/15 05:00 [entrez]
AID - 10.1007/s10038-004-0144-5 [doi]
PST - ppublish
SO  - J Hum Genet. 2004;49(5):282-4. doi: 10.1007/s10038-004-0144-5.