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.
Max Planck Institute for Molecular Genetics, Department Ropers, Berlin, Germany. tzschach@molgen.mpg.de
A
A
Tzschach
C
C
Ramel
A
A
Kron
B
B
Seipel
C
C
Wüster
U
U
Cordes
T
T
Liehr
M
M
Hoeltzenbein
C
C
Menzel
H-H
HH
Ropers
R
R
Ullmann
V
V
Kalscheuer
J
J
Decker
D
D
Steinberger
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