MIR7-2 CHNG3
SupportedContrac.New
Disease ID
CHNG3
Gene ID
MIR7-2
Updated
Dec 31, 2025
v2.14.0
Clinical Links
GARD
1487
MalaCard
HYP355
MedGen
424853
Mondo
0012360
OMIM
609893
DECIPHER
MIR7-2
Bioinformatical Links
gnomAD
PRE-MIR7-2
TR-Atlas
TR192005
WebSTR hg38
5177365
WebSTR hg19
STR_492924
TR Explorer
chr15:88569434-88569452
Suggest Edit

Disease
Name
Nongoitrous congenital hypothyroidism-3
Inheritance
Autosomal dominant
Description
Nongoitrous congenital hypothyroidism-3 (CHNG3) is characterized by infantile-onset clinical and subclinical hypothyroidism associated with a small thyroid gland, high circulating TSH, normal free T4 levels, and normal or mildly increased serum thyroglobulin. Untreated patients or patients who discontinue treatment show a characteristic transition to multinodular goiter (MNG) with age1 .
Prevalence
Found in 12 families, with ancestry including: Irish, White European, French (Normandie), Ashkenazi, French Canadian, Danish/White European, Welsh, Scottish, Italian, British/White European, Italian/Turkish/Lebanese, German/Palestinian, and South Chinese2 .
Age of OnsetYears0  0
Age of Onset Details
0 (birth)

Locus
hg19
chr15:89112664-89112683
hg38
chr15:88569433-88569452
t2t
chr15:86324038-86324057
Details
Deletion of one repeat (4 to 3 repeats) found in 10 unrelated families with unsolved disease3 ; a heterozygous T-to-G transversion in the third repeat can also lead to disease2 .
Mechanism
GoF
Activates a thyroid-specific enhancer2,3 .
Year
20243
Location in Gene
Non-coding
Gene Strand

Alleles
Ref. Motif
TTTG
Pathogenic (ref.)
TTTG
Pathogenic (gene)
AAAC
BenignPathogenicUnits4  43  3

References

Direct supporting references for info on this page.

1
omim:609893
2
Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities.
Satoshi,Narumi, Keisuke,Nagasaki, Mitsuo,Kiriya, Erika,Uehara, Kazuhisa,Akiba, Kanako,Tanase-Nakao, Kazuhiro,Shimura, Kiyomi,Abe, Chiho,Sugisawa, Tomohiro,Ishii, Kenichi,Miyako, Yukihiro,Hasegawa, Yoshihiro,Maruo, Koji,Muroya, Natsuko,Watanabe, Eijun,Nishihara, Yuka,Ito, Takahiko,Kogai, Kaori,Kameyama, Kazuhiko,Nakabayashi, Kenichiro,Hata, Maki,Fukami, Hirohito,Shima, Atsuo,Kikuchi, Jun,Takayama, Gen,Tamiya, Tomonobu,Hasegawa
Nature genetics · 2024-05-07
pmid:38714868
3
STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179.
Helmut,Grasberger, Alexandra M,Dumitrescu, Xiao-Hui,Liao, Elliott G,Swanson, Roy E,Weiss, Panudda,Srichomkwun, Theodora,Pappa, Junfeng,Chen, Takashi,Yoshimura, Phillip,Hoffmann, Monica Malheiros,França, Rebecca,Tagett, Kazumichi,Onigata, Sabine,Costagliola, Jane,Ranchalis, Mitchell R,Vollger, Andrew B,Stergachis, Jessica X,Chong, Michael J,Bamshad, Guillaume,Smits, Gilbert,Vassart, Samuel,Refetoff
Nature genetics · 2024-05-07
pmid:38714869