Congenital hypothyroidism
Gene: LHX3Comment on list classification: Updated rating from Grey to Green: 1 Green review (from gene submitter). Plus >3 cases of LHX3 mutations causing combined pituitary hormone deficiency, which can present with CH. At least 2 cases mention hypothyroidism specifically (PMID:21249393 and PMID:18407919).Created: 21 Feb 2017, 10:26 a.m.
LHX3 is an early pituitary transcription factor. Mutations in early or late pituitary transcription factors may cause central hypothyroidism (CH), a particular hypothyroid condition due to an insufficient stimulation by TSH of an otherwise normal thyroid gland. In these cases, CH does not occur in isolation, but is one of the evolving pituitary hormone deficiencies [PMID:26416826].Created: 21 Feb 2017, 10:10 a.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM and G2P.Created: 20 Feb 2017, 10:57 a.m.
>3 cases of LHX3 mutations causing MIM:221750 (Pituitary hormone deficiency, combined, 3).Created: 20 Feb 2017, 10:55 a.m.
Confirmed DD-G2P gene for MIM:221750 (Pituitary hormone deficiency, combined, 3).Created: 20 Feb 2017, 10:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GH, TSH, LH, FSH, PRL deficiency, limited neck rotation, short cervical spine, sensorineural deafness, anterior pituitary may be normal, hypoplastic or enlarged
Publications
22 February 2017: Promoted to Version 1. Reviews were assessed, and panel was revised according to expert review and additional curation. After discussion with the reviewer and in-house clinicians, it was agreed to include the genes for 'combined pituitary hormone deficiency' (CPHD) on the panel, since patients can present with central hypothyroidism (CH). In these cases, CH does not occur in isolation, but is one of the evolving pituitary hormone deficiencies.
Phenotypes for LHX3 were set to GH, TSH, LH, FSH, PRL deficiency; limited neck rotation; short cervical spine; sensorineural deafness; anterior pituitary may be normal, hypoplastic or enlarged; Pituitary hormone deficiency, combined, 3, 221750
Publications for LHX3 were set to 10835633; 26416826 (2015 review); 21249393;18407919
This gene has been classified as Green List (High Evidence).
Publications for LHX3 were set to 10835633; 26416826 (2015 review); 21249393
Mode of inheritance for LHX3 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for LHX3 were set to GH, TSH, LH, FSH, PRL deficiency, limited neck rotation, short cervical spine, sensorineural deafness, anterior pituitary may be normal, hypoplastic or enlarged; Pituitary hormone deficiency, combined, 3, 221750
Publications for LHX3 were set to 10835633; 26416826 (2015 review)
LHX3 was added to Congenital hypothyroidism or thyroid agenesispanel. Sources: Literature
LHX3 was created by [email protected]