A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformation

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 ph...

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Autores principales: Kishi, Haruka, Jojima, Teruo, Kogai, Takahiko, Iijima, Toshie, Ohira, Eriko, Tanuma, Dai, Konno, Sachiyo, Kato, Kanako, Kezuka, Atsumi, Akimoto, Kazumi, Sakumoto, Junko, Hishinuma, Akira, Tomaru, Takuya, Makita, Noriko, Usui, Isao, Aso, Yoshimasa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752573/
https://www.ncbi.nlm.nih.gov/pubmed/33363791
http://dx.doi.org/10.1002/ccr3.3186
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author Kishi, Haruka
Jojima, Teruo
Kogai, Takahiko
Iijima, Toshie
Ohira, Eriko
Tanuma, Dai
Konno, Sachiyo
Kato, Kanako
Kezuka, Atsumi
Akimoto, Kazumi
Sakumoto, Junko
Hishinuma, Akira
Tomaru, Takuya
Makita, Noriko
Usui, Isao
Aso, Yoshimasa
author_facet Kishi, Haruka
Jojima, Teruo
Kogai, Takahiko
Iijima, Toshie
Ohira, Eriko
Tanuma, Dai
Konno, Sachiyo
Kato, Kanako
Kezuka, Atsumi
Akimoto, Kazumi
Sakumoto, Junko
Hishinuma, Akira
Tomaru, Takuya
Makita, Noriko
Usui, Isao
Aso, Yoshimasa
author_sort Kishi, Haruka
collection PubMed
description 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.
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spelling pubmed-77525732020-12-23 A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformation Kishi, Haruka Jojima, Teruo Kogai, Takahiko Iijima, Toshie Ohira, Eriko Tanuma, Dai Konno, Sachiyo Kato, Kanako Kezuka, Atsumi Akimoto, Kazumi Sakumoto, Junko Hishinuma, Akira Tomaru, Takuya Makita, Noriko Usui, Isao Aso, Yoshimasa Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2020-08-14 /pmc/articles/PMC7752573/ /pubmed/33363791 http://dx.doi.org/10.1002/ccr3.3186 Text en © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Kishi, Haruka
Jojima, Teruo
Kogai, Takahiko
Iijima, Toshie
Ohira, Eriko
Tanuma, Dai
Konno, Sachiyo
Kato, Kanako
Kezuka, Atsumi
Akimoto, Kazumi
Sakumoto, Junko
Hishinuma, Akira
Tomaru, Takuya
Makita, Noriko
Usui, Isao
Aso, Yoshimasa
A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformation
title 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_short 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
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752573/
https://www.ncbi.nlm.nih.gov/pubmed/33363791
http://dx.doi.org/10.1002/ccr3.3186
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