Abstract
Dyshormonogenic congenital hypothyroidism (CH) generally results from biallelic defects in thyroid hormone synthesis genes. Whole exome sequencing allows easier identification of multiple gene defects. Two Sudanese families with CH resulting from oligogenic defects identified by whole exome sequencing are presented. In family 1, the proposita with CH and goiter was heterozygous for three TPO, one TG, and one DUOX2 mutations, including three novel variants inherited from both parents. In family 2, two brothers with psychomotor delay and goiter were homozygous for digenic mutations in the DUOX2 and DUOX1 genes, while their asymptomatic parents were heterozygous. Accumulation of pathogenic mutations may contribute to CH.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 302-304 |
| Number of pages | 3 |
| Journal | Thyroid |
| Volume | 29 |
| Issue number | 2 |
| DOIs | |
| State | Published - Feb 1 2019 |
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Keywords
- congenital hypothyroidism
- DUOX1 gene
- DUOX2 gene
- oligogenic mutations
- TG gene
- TPO gene
ASJC Scopus subject areas
- Endocrinology, Diabetes and Metabolism
- Endocrinology
Cite this
Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families. / Watanabe, Yui; Bruellman, Ryan J.; Ebrhim, Reham S.; Abdullah, Mohamed A.; Dumitrescu, Alexandra M.; Refetoff, Samuel; Weiss, Roy E.
In: Thyroid, Vol. 29, No. 2, 01.02.2019, p. 302-304.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families
AU - Watanabe, Yui
AU - Bruellman, Ryan J.
AU - Ebrhim, Reham S.
AU - Abdullah, Mohamed A.
AU - Dumitrescu, Alexandra M.
AU - Refetoff, Samuel
AU - Weiss, Roy E
PY - 2019/2/1
Y1 - 2019/2/1
N2 - Dyshormonogenic congenital hypothyroidism (CH) generally results from biallelic defects in thyroid hormone synthesis genes. Whole exome sequencing allows easier identification of multiple gene defects. Two Sudanese families with CH resulting from oligogenic defects identified by whole exome sequencing are presented. In family 1, the proposita with CH and goiter was heterozygous for three TPO, one TG, and one DUOX2 mutations, including three novel variants inherited from both parents. In family 2, two brothers with psychomotor delay and goiter were homozygous for digenic mutations in the DUOX2 and DUOX1 genes, while their asymptomatic parents were heterozygous. Accumulation of pathogenic mutations may contribute to CH.
AB - Dyshormonogenic congenital hypothyroidism (CH) generally results from biallelic defects in thyroid hormone synthesis genes. Whole exome sequencing allows easier identification of multiple gene defects. Two Sudanese families with CH resulting from oligogenic defects identified by whole exome sequencing are presented. In family 1, the proposita with CH and goiter was heterozygous for three TPO, one TG, and one DUOX2 mutations, including three novel variants inherited from both parents. In family 2, two brothers with psychomotor delay and goiter were homozygous for digenic mutations in the DUOX2 and DUOX1 genes, while their asymptomatic parents were heterozygous. Accumulation of pathogenic mutations may contribute to CH.
KW - congenital hypothyroidism
KW - DUOX1 gene
KW - DUOX2 gene
KW - oligogenic mutations
KW - TG gene
KW - TPO gene
UR - http://www.scopus.com/inward/record.url?scp=85061498225&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85061498225&partnerID=8YFLogxK
U2 - 10.1089/thy.2018.0295
DO - 10.1089/thy.2018.0295
M3 - Article
VL - 29
SP - 302
EP - 304
JO - Thyroid
JF - Thyroid
SN - 1050-7256
IS - 2
ER -