Abstract
Using a next-generation sequencing strategy, we identified a novel KAL1 missense mutation (p.His568Gln) in a patient with combined pituitary hormone deficiency, right microphthalmia, right renal aplasia and severe developmental delay. Our findings will provide additional evidence that KAL1 mutations are associated with hypopituitarism, in addition to luteinizing hormone, and follicle-stimulating hormone deficiencies, and improve our understanding of the phenotypic features and developmental course associated with KAL1 mutations.
| Original language | English |
|---|---|
| Article number | 14011 |
| Journal | Human Genome Variation |
| Volume | 1 |
| DOIs | |
| Publication status | Published - 2014 Jan 1 |
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ASJC Scopus subject areas
- Biochemistry
- Genetics
- Molecular Biology
Cite this
A novel KAL1 mutation is associated with combined pituitary hormone deficiency. / Takagi, Masaki; Narumi, Satoshi; Hamada, Riku; Hasegawa, Yukihiro; Hasegawa, Tomonobu.
In: Human Genome Variation, Vol. 1, 14011, 01.01.2014.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - A novel KAL1 mutation is associated with combined pituitary hormone deficiency
AU - Takagi, Masaki
AU - Narumi, Satoshi
AU - Hamada, Riku
AU - Hasegawa, Yukihiro
AU - Hasegawa, Tomonobu
PY - 2014/1/1
Y1 - 2014/1/1
N2 - Using a next-generation sequencing strategy, we identified a novel KAL1 missense mutation (p.His568Gln) in a patient with combined pituitary hormone deficiency, right microphthalmia, right renal aplasia and severe developmental delay. Our findings will provide additional evidence that KAL1 mutations are associated with hypopituitarism, in addition to luteinizing hormone, and follicle-stimulating hormone deficiencies, and improve our understanding of the phenotypic features and developmental course associated with KAL1 mutations.
AB - Using a next-generation sequencing strategy, we identified a novel KAL1 missense mutation (p.His568Gln) in a patient with combined pituitary hormone deficiency, right microphthalmia, right renal aplasia and severe developmental delay. Our findings will provide additional evidence that KAL1 mutations are associated with hypopituitarism, in addition to luteinizing hormone, and follicle-stimulating hormone deficiencies, and improve our understanding of the phenotypic features and developmental course associated with KAL1 mutations.
UR - http://www.scopus.com/inward/record.url?scp=84960311133&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84960311133&partnerID=8YFLogxK
U2 - 10.1038/hgv.2014.11
DO - 10.1038/hgv.2014.11
M3 - Article
AN - SCOPUS:84960311133
VL - 1
JO - Human Genome Variation
JF - Human Genome Variation
SN - 2054-345X
M1 - 14011
ER -