Results 141 to 150 of about 1,253,968 (181)

Characteristics of Hearing Loss in HDR (Hypoparathyroidism, Sensorineural Deafness, Renal Dysplasia) Syndrome

Audiology and Neuro-Otology, 2006
Haploinsufficiency of the zinc finger transcription factor GATA3 causes the triad of hypoparathyroidism, deafness and renal dysplasia, known by its acronym HDR syndrome. The purpose of the current study was to describe in detail the auditory phenotype in
Rajesh Thakker, Paul T Christie
exaly   +5 more sources

Audiometric Characteristics of a Dutch Family With a New Mutation in GATA3 Causing HDR Syndrome

Audiology and Neuro-Otology, 2014
Item does not contain fulltextWe present the case of a Dutch family with a new mutation (c523_528dup) in GATA3 causing HDR syndrome. HDR syndrome is characterised by hypoparathyroidism, deafness and renal defects.
A F M Snik, P L M Huygen, P L M Huygen
exaly   +5 more sources

GATA3 Abnormalities in Six Patients With HDR Syndrome

Endocrine Journal, 2011
GATA3 mutations cause HDR (hypoparathyroidism, sensorineural deafness, and renal dysplasia) syndrome and, consistent with the presence of the second DiGeorge syndrome locus (DGS2) proximal to GATA3, distal 10p deletions often leads to HDR and DiGeorge syndromes. Here, we report on six Japanese patients with GATA3 abnormalities.
Maki Fukami, Koji Muroya, Hisashi Yokoi
exaly   +4 more sources

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Co‐occurrence of 22q11 deletion syndrome and hdr syndrome

American Journal of Medical Genetics Part A, 2013
ABSTRACT22q11 deletion syndrome is one of the most common chromosomal deletion syndromes and is usually caused by a 1.5–3.0 Mb deletion at chromosome 22q11.2. It is characterized by hypocalcemia resulting from hypoplasia of the parathyroid glands, hypoplasia of the thymus, and defects of the cardiac outflow tract.
Ryoko, Fukai, Nobuhiko, Ochi, Akira, Murakami, Mitsuko, Nakashima, Yoshinori, Tsurusaki, Hirotomo, Saitsu, Naomichi, Matsumoto, Noriko, Miyake   +7 more
openaire   +2 more sources

Identification of a novel insertion mutation in GATA3 with HDR syndrome

Clinical and Experimental Nephrology, 2005
Recently, a member of the GATA-binding family of transcription factors was shown to be involved in human hypoparathyroidism, sensorineural deafness, and renal abnormality (HDR) syndrome. We report here a Japanese family in which two of the members are affected with HDR syndrome.
Yukari, Mino, Takashi, Kuwahara, Toshifumi, Mannami, Keisuke, Shioji, Koh, Ono, Naoharu, Iwai   +5 more
openaire   +2 more sources

HDR Syndrome, Detected in the Neonatal Period by Newborn Hearing Screening

Auris Nasus Larynx
Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disorder. Because HDR syndrome is caused by haploinsufficiency in GATA3, it exhibits variation in the onset and progression of hearing loss. In previous reports, the automated auditory brainstem response (AABR) was considered insufficient to detect sensorineural ...
Shunsuke Takai, Yukio Katori, Daisuke Yamauchi   +2 more
exaly   +3 more sources

Novel dominant-negative mutant of GATA3 in HDR syndrome

Journal of Molecular Medicine, 2010
HDR syndrome is an autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal anomaly caused by mutation of the GATA3 gene located at chromosome 10p15. We report the case of a neonate with HDR syndrome and a novel GATA3 mutation. We performed genetic and functional analysis of GATA3 in this patient and identified
Masaaki, Ohta, Minenori, Eguchi-Ishimae, Mayumi, Ohshima, Hidehiko, Iwabuki, Koji, Takemoto, Kikuko, Murao, Toshiyuki, Chisaka, Eiichi, Yamamoto, Takashi, Higaki, Keiichi, Isoyama, Mariko, Eguchi, Eiichi, Ishii   +11 more
openaire   +2 more sources

Novel DNA Mutation in the GATA3 Gene in an Emirati Boy With HDR Syndrome and Hypomagnesemia

Pediatric Nephrology, 2011
We report the case of a young Emirati boy with HDR (Hypoparathyroidism, sensorineural Deafness, and Renal hypoplasia) syndrome due to the novel heterozygous deletion of two nucleotides (c.35_36delGC ) in exon 2 of the GATA3 gene. The patient developed hypocalcemia and hypomagnesemia at 3 weeks of age with high fractional excretion of magnesium ...
Patrick J Willems
exaly   +3 more sources

HDR syndrome: A novel “de novo” mutation in GATA3 gene

American Journal of Medical Genetics Part A, 2009
Abstract Human GATA3 haploinsufficiency leads to HDR (hypoparathyroidism, deafness, and renal dysplasia) syndrome. The development of a specific subset of organs in which this transcription factor is expressed appears exquisitely sensitive to gene dosage.
Ferraris S, Del Monaco AG, GARELLI, Emanuela, CARANDO, Adriana, De Vito B, Pappi P, Lala R, Ponzone A.   +7 more
openaire   +3 more sources