Dystonia‐Deafness Syndrome: <scp><i>ACTB</i></scp> Pathogenic Variant in an Argentinean Family

Zavala, Lucía; Ziegler, G; Morón, Dolores González; Garretto, Nélida

doi:10.1002/mdc3.13358

Cited by 6 publications

(2 citation statements)

References 10 publications

(13 reference statements)

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“…To date, 19 variant-related phenotypes are described. The most frequently encountered variant is c.547C > T (p.Arg183Trp), reported in six clinical studies [ 15 , 16 , 17 , 18 , 19 , 20 ]. This variant and the variants c.484A> G (p.Thr162Ala) [ 20 ], c.586C > T (p.Arg196Cys) (in one out of two case reports) [ 12 , 21 ] and c.826G > A (p.Glu276Lys) [ 22 ], are associated with a hearing impairment.…”

Section: Hearing Loss In Baraitser–winter Syndrome: Evidence Synthesismentioning

confidence: 99%

“…The use of hearing aids for auditory rehabilitation (specifically, a CI) is only reported in the paper by Skogseid et al [15]. Finally, in most patients with the c.547C > T variant, the presence of dystonia, facial dysmorphisms, motor and language delays, renal and genital anomalies and, in only a few cases, motor and step acquisition delay, epilepsy and mild intellectual disability are described [15][16][17][18][19][20]. Audiometric tests are reported in the cases with the variants c.220 G > A (p.Gly74Ser), c.359C4T (p.Thr120Ile) and c.617G > A (p.Arg206Gl), but no hearing impairment was found [12,23. No information on hearing ability or whether it was assessed was reported in any of the remaining clinical reports.…”

Section: Hearing Loss In Baraitser-winter Syndrome: Evidence Synthesismentioning

confidence: 99%

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Hearing Loss in Baraitser–Winter Syndrome: Case Reports and Review of the Literature

Ghiselli,

Parmeggiani,

Zambonini

et al. 2024

JCM

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Background: Baraitser–Winter Syndrome (BRWS) is a rare autosomal dominant condition associated with hearing loss (HL). In the literature, two types of this condition are reported, Baraitser–Winter type 1 (BRWS1) and type 2 (BRWS2) produced by specific pathogenetic variants of two different genes, ACTB for BRWS1 and ACTG1 for BRWS2. In addition to syndromic BRWS2, some pathogenic variants in ACTG1 are associated also to another pathologic entity, the “Autosomal dominant non-syndromic hearing loss 20/26”. In these syndromes, typical craniofacial features, sensory impairment (vision and hearing) and intellectual disabilities are frequently present. Heart anomalies, renal and gastrointestinal involvement and seizure are also common. Wide inter- and intra-familial variety in the phenotypic spectrum is reported. Some phenotypic aspects of these syndromes are not yet fully described, such as the degree and progression of HL, and better knowledge of them could be useful for correct follow-up and treatment. Methods and Results: In this study, we report two cases of children with HL and diagnosis of BRWS and a review of the current literature on HL in these syndromes.

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Section: Hearing Loss In Baraitser–winter Syndrome: Evidence Synthesismentioning

confidence: 99%

Section: Hearing Loss In Baraitser-winter Syndrome: Evidence Synthesismentioning

confidence: 99%

Hearing Loss in Baraitser–Winter Syndrome: Case Reports and Review of the Literature

Ghiselli,

Parmeggiani,

Zambonini

et al. 2024

JCM

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Expansion of the prenatal phenotype of Baraitser–Winter syndrome: Presentation of two cases of multiple congenital anomaly syndrome

Burrill,

Crane,

Khalek

et al. 2024

American J of Med Genetics Pt A

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Baraitser–Winter cerebrofrontofacial syndrome (BWCFF) is a variable multiple congenital anomaly condition, typically presenting postnatally with neurocognitive delays, distinctive facial features, cortical brain malformations, and in some, a variety of additional congenital malformations. However, only a few cases have reported the prenatal presentation of this syndrome. Here, we report two cases of BWCFF and their associated prenatal findings. One case presented with non‐immune hydrops fetalis and a horseshoe kidney and was found to have a de novo heterozygous variant in ACTB (c.158A>G). The second case presented with gastroschisis, bilateral cleft lip and palate, and oligohydramnios, and was found to harbor a different de novo variant in ACTB (c.826G>A). Limited reports exist describing prenatally identified anomalies that include fetal growth restriction, increased nuchal fold, bilateral hydronephrosis, rocker bottom foot, talipes, cystic hygroma, omphalocele, and hydrops fetalis. In addition, only three of these cases have included detailed prenatal imaging findings. The two prenatal cases presented here demonstrate an expansion of the prenatal phenotype of BWCFF to include gastroschisis, lymphatic involvement, and oligohydramnios, which should each warrant consideration of this diagnosis in the setting of additional anomalies.

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Dystonia‐Deafness Syndrome Response to Subthalamic Nucleus Stimulation

Zhang

Huang

Wang

et al. 2022

Movement Disord Clin Pract

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Dystonia-deafness syndrome (DDS) is a distinct clinical entity with an unclear pathophysiological mechanism. Sensory-neural deafness and dystonia are the dominant characteristics of DDS, with the former always preceding the latter. 1 Several genetic causes of DDS have been identified, such as Mohr-Tranebjaerg syndrome; Woodhouse-Sakati syndrome; large deletion of chro-FIG. 1. Diagram of ACTB C.547C > T (p.R183W) alteration. According to the American College of Medical Genetics and Genomics (ACMG) guidelines, this mutation is pathogenic. (A) The base of C.547 mutated from C to T, and the amino acid changed from arginine to tryptophan. (B) The 3-dimensional model structure of β-actin (ACTB) wild type. (C) The Arg 183 of ACTB. (D) The Trp 183 of mutated ACTB.

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Dystonia‐Deafness Syndrome: ACTB Pathogenic Variant in an Argentinean Family

Cited by 6 publications

References 10 publications

Hearing Loss in Baraitser–Winter Syndrome: Case Reports and Review of the Literature

Hearing Loss in Baraitser–Winter Syndrome: Case Reports and Review of the Literature

Expansion of the prenatal phenotype of Baraitser–Winter syndrome: Presentation of two cases of multiple congenital anomaly syndrome

Dystonia‐Deafness Syndrome Response to Subthalamic Nucleus Stimulation

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