Pituitary hormone deficiency

Gene: PAX6

Comment on list classification: Leaving rating as red, only 1 patient is reported with a variant in PAX and a pituitary hormone deficiency. Another patient is reported with deletion of the enhancer region of PAX6, but the PAX6 coding region was unaffected. Awaiting further cases before considering promoting to amber or green.

Created: 18 Sep 2022, 9:39 p.m. | Last Modified: 18 Sep 2022, 9:39 p.m.

Panel Version: 2.62

PMID: 25342853 - Takagi et al 2015 - studied 88 (syndromic: 30; non-syndromic: 58) Japanese congenital hypopituitarism patients and performed aCGH on the syndromic patients, and analysed PAX6 in all 88 patients. They found 1 heterozygous 310-kb deletion of the PAX6 enhancer region, and 1 non-syndromic patient with a p.N116S variant. Both showed isolated GH deficiency.

Created: 18 Sep 2022, 9:23 p.m. | Last Modified: 18 Sep 2022, 9:23 p.m.

Panel Version: 2.61

Review on behalf of Professor Mehul Dattani, UCL GOS Institute of Child Health/Great Ormond Street Hospital for Children. Takagi M, Nagasaki K, Fujiwara I, Ishii T, Amano N, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T.Eur J Endocrinol. 2015 Jan;172(1):37-45. doi: 10.1530/EJE-14-0255. Epub 2014 Oct 23.PMID:25342853

Created: 14 Sep 2022, 4:44 p.m. | Last Modified: 14 Sep 2022, 4:44 p.m.

Panel Version: 2.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
EYE ABNORMALITIES, GH DEFICIENCY

Publications

• 25342853

PAX6 is confirmed to be associated with the listed phenotypes in OMIM and Gene2Phenotype; however, there is only one reported case of a patient with congenital hypopituitarism who has a variant in PAX6.

Created: 10 Dec 2018, 5:01 p.m.