12th international CHARGE syndrome conference proceedings.
Saint Louis, United States. In Am J Med Genet A, Feb 2016
Here, we summarize presentations from the meeting, including a synopsis of each of the three different breakout sessions (Medical/Clinical, Basic Science/CHD7, and Education), followed by a list of abstracts and authors for both platform and poster presentations.
Genetics of Hypogonadotropic Hypogonadism.
In Endocr Dev, Dec 2015
In Kallmann syndrome (KS), according to the presence of certain accompanying clinical features, genetic screening for particular gene(s) may be prioritized: synkinesia (KAL1), dental agenesis (FGF8/FGFR1), bony anomalies (FGF8/FGFR1), and hearing loss (CHD7, SOX10).
CHARGE syndrome with oculomotor nerve palsy.
Seoul, South Korea. In J Aapos, Dec 2015
He had patent ductus arteriosus, small testicles, growth retardation, auricular deformity, left semicircular canal aplasia, and a de novo nonsense mutation (p.Ser705X) of the CHD7 gene.
Reproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromes.
Liège, Belgium. In Front Endocrinol (lausanne), 2013
KS is associated with mutations in KAL1, FGFR1/FGF8, FGF17, IL17RD, PROK2/PROKR2, NELF, CHD7, HS6ST1, FLRT3, SPRY4, DUSP6, SEMA3A, NELF, and WDR11 genes that are related to defects in neuronal migration.
CHD7 in charge of neurogenesis.
Boston, United States. In Cell Stem Cell, 2013
(2013) report that the gene mutated in human CHARGE syndrome, ATP-dependent chromatin remodeling factor CHD7, contributes to the control of neurogenesis.
Clinical diagnosis by whole-genome sequencing of a prenatal sample.
Boston, United States. In N Engl J Med, 2013
Using a 13-day sequence and analysis pipeline, we discovered direct disruption of CHD7, a causal locus in the CHARGE syndrome (coloboma of the eye, heart anomaly, atresia of the choanae, retardation, and genital and ear anomalies).