Unknown

Dataset Information

0

A novel KAL1 mutation is associated with combined pituitary hormone deficiency.


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.

SUBMITTER: Takagi M 

PROVIDER: S-EPMC4785554 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

altmetric image

Publications

A novel KAL1 mutation is associated with combined pituitary hormone deficiency.

Takagi Masaki M   Narumi Satoshi S   Hamada Riku R   Hasegawa Yukihiro Y   Hasegawa Tomonobu T  

Human genome variation 20140925


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 cour  ...[more]

Similar Datasets

| S-EPMC2582563 | biostudies-literature
| S-EPMC6515070 | biostudies-literature
| S-EPMC7308526 | biostudies-literature
| S-EPMC7461210 | biostudies-literature
| S-EPMC7015471 | biostudies-literature
| S-EPMC3355643 | biostudies-literature
| S-EPMC5356396 | biostudies-literature
| S-EPMC7859387 | biostudies-literature
| S-EPMC6336933 | biostudies-literature
| S-EPMC9032872 | biostudies-literature