A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformation
Abstract Autosomal dominant hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome are typically diagnosed by manifestations of the three features with a positive family history. Our case carried a de novo variant in causative gene, GATA3, but presenting no renal dysplasia or family histor...
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| Series: | Clinical Case Reports |
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| Online Access: | https://doi.org/10.1002/ccr3.3186 |
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doaj-43c5c4f10fc74e1891a01b40795994bd2021-08-02T06:23:37ZengWileyClinical Case Reports2050-09042020-12-018122619262410.1002/ccr3.3186A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformationHaruka Kishi0Teruo Jojima1Takahiko Kogai2Toshie Iijima3Eriko Ohira4Dai Tanuma5Sachiyo Konno6Kanako Kato7Atsumi Kezuka8Kazumi Akimoto9Junko Sakumoto10Akira Hishinuma11Takuya Tomaru12Noriko Makita13Isao Usui14Yoshimasa Aso15Department of Endocrinology and Metabolism Dokkyo Medical University Mibu, Tochigi JapanDepartment of Endocrinology and Metabolism Dokkyo Medical University Mibu, Tochigi JapanDepartment of Infection Control and Clinical Laboratory Medicine Dokkyo Medical University Mibu Shimotsuga, Tochigi JapanDepartment of Endocrinology and Metabolism Dokkyo Medical University Mibu, Tochigi JapanDepartment of Endocrinology and Metabolism Dokkyo Medical University Mibu, Tochigi JapanDepartment of Endocrinology and Metabolism Dokkyo Medical University Mibu, Tochigi JapanCenter of Medical Ultrasonics Dokkyo Medical University Mibu Shimotsuga, Tochigi JapanDepartment of Endocrinology and Metabolism Dokkyo Medical University Mibu, Tochigi JapanDepartment of Endocrinology and Metabolism Dokkyo Medical University Mibu, Tochigi JapanDivision of Clinical Science Research Support Center Dokkyo Medical University Mibu Shimotsuga, Tochigi JapanDepartment of Infection Control and Clinical Laboratory Medicine Dokkyo Medical University Mibu Shimotsuga, Tochigi JapanDepartment of Infection Control and Clinical Laboratory Medicine Dokkyo Medical University Mibu Shimotsuga, Tochigi JapanDepartment of Endocrinology and Metabolism Dokkyo Medical University Mibu, Tochigi JapanDepartment of Nephrology and Endocrinology The University of Tokyo Tokyo JapanDepartment of Endocrinology and Metabolism Dokkyo Medical University Mibu, Tochigi JapanDepartment of Endocrinology and Metabolism Dokkyo Medical University Mibu, Tochigi JapanAbstract Autosomal dominant hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome are typically diagnosed by manifestations of the three features with a positive family history. Our case carried a de novo variant in causative gene, GATA3, but presenting no renal dysplasia or family history. The phenotypic heterogeneity raises a caution for diagnosis.https://doi.org/10.1002/ccr3.3186GATA3HDR syndromehypoparathyroidismsensorineural deafness |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Haruka Kishi Teruo Jojima Takahiko Kogai Toshie Iijima Eriko Ohira Dai Tanuma Sachiyo Konno Kanako Kato Atsumi Kezuka Kazumi Akimoto Junko Sakumoto Akira Hishinuma Takuya Tomaru Noriko Makita Isao Usui Yoshimasa Aso |
| spellingShingle |
Haruka Kishi Teruo Jojima Takahiko Kogai Toshie Iijima Eriko Ohira Dai Tanuma Sachiyo Konno Kanako Kato Atsumi Kezuka Kazumi Akimoto Junko Sakumoto Akira Hishinuma Takuya Tomaru Noriko Makita Isao Usui Yoshimasa Aso A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformation Clinical Case Reports GATA3 HDR syndrome hypoparathyroidism sensorineural deafness |
| author_facet |
Haruka Kishi Teruo Jojima Takahiko Kogai Toshie Iijima Eriko Ohira Dai Tanuma Sachiyo Konno Kanako Kato Atsumi Kezuka Kazumi Akimoto Junko Sakumoto Akira Hishinuma Takuya Tomaru Noriko Makita Isao Usui Yoshimasa Aso |
| author_sort |
Haruka Kishi |
| title |
A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformation |
| title_short |
A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformation |
| title_full |
A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformation |
| title_fullStr |
A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformation |
| title_full_unstemmed |
A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformation |
| title_sort |
case of hypoparathyroidism, deafness, and renal dysplasia (hdr) syndrome with a novel frameshift variant in gata3, p.w10cfs40, lacks kidney malformation |
| publisher |
Wiley |
| series |
Clinical Case Reports |
| issn |
2050-0904 |
| publishDate |
2020-12-01 |
| description |
Abstract Autosomal dominant hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome are typically diagnosed by manifestations of the three features with a positive family history. Our case carried a de novo variant in causative gene, GATA3, but presenting no renal dysplasia or family history. The phenotypic heterogeneity raises a caution for diagnosis. |
| topic |
GATA3 HDR syndrome hypoparathyroidism sensorineural deafness |
| url |
https://doi.org/10.1002/ccr3.3186 |
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