Hypergonadotropic hypogonadism in a patient with inv ins (2;4).
We report on a 30-year-old man with azoospermia, primary hypogonadism and minor dysmorphic features who carried a balanced insertional chromosome translocation inv ins (2p24;4q28.3q31.22)de novo. Molecular cytogenetic analyses of the chromosome breakpoints revealed the localization of the breakpoint in 4q28.3 between BACs RP11-143E9 and RP11-285A15, an interval that harbours the PCDH10 gene. In 4q31.22, a breakpoint-spanning clone (RP11-6L6) was identified which contains the genes LSM6 and SLC10A7. On chromosome 2, BACs RP11-531P14 and RP11-360O18 flank the breakpoint in 2p24, a region void of known genes. In conclusion, the chromosome aberration of this patient suggests a gene locus for primary hypogonadism in 2p24, 4q28.3 or 4q31.2, and three possible candidate genes (LSM6, SLC10A7 and PCDH10) were identified by breakpoint analyses.
Tzschach
A
A
Max Planck Institute for Molecular Genetics, Department Ropers, Berlin, Germany. tzschach@molgen.mpg.de
Ramel
C
C
Kron
A
A
Seipel
B
B
Wüster
C
C
Cordes
U
U
Liehr
T
T
Hoeltzenbein
M
M
Menzel
C
C
Ropers
H-H
HH
Ullmann
R
R
Kalscheuer
V
V
Decker
J
J
Steinberger
D
D
D000328:Adult; D015820:Cadherins / Q000235:genetics; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D029363:Organic Anion Transporters, Sodium-Dependent / Q000235:genetics; D000091363:Protocadherins; D016601:RNA-Binding Proteins / Q000235:genetics; D027981:Symporters / Q000235:genetics; D014178:Translocation, Genetic
D015820:Cadherins; C543116:LSM6 protein, human; D029363:Organic Anion Transporters, Sodium-Dependent; C438603:PCDH10 protein, human; D000091363:Protocadherins; D016601:RNA-Binding Proteins; C543117:Slc10a7 protein, human; D027981:Symporters