Wiedemann–Rautenstrauch syndrome prenatal diagnosis

Becerra, Carlos; Contreras-García, Gustavo Adolfo; Pérez-Vera, Luis Alfonso; Díaz‐Martínez, Luis Alfonso; Avendaño, Mónica Andrea Beltrán; Martínez, H A Salazar

doi:10.1038/jp.2014.156

Cited by 4 publications

(2 citation statements)

References 15 publications

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“…Patients often have what is described as pseudohydrocephalus, neonatal progeroid appearance, diminished subcutaneous fat, and neonatal teeth. Prenatal ultrasound findings of cranial suture diastasis and skull and facial bone hypomineralization have been reported by Becerra et al []. The life span of affected individuals is typically less than 1 year, although there are rare reports of patients surviving into their teens [Thorey et al, ; Arboleda and Arboleda, ; Kiraz et al, ].…”

Section: Introductionmentioning

confidence: 99%

Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A

Jay

Conway

Thiffault

et al. 2016

American J of Med Genetics Pt A

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Wiedemann-Rautenstrauch syndrome, also known as neonatal progeroid syndrome, is a rare condition with fewer than 40 patients reported in the literature. Characteristic physical findings include neonatal progeroid appearance, sparse scalp hair, prominent scalp veins, and lipoatrophy; in addition, neonatal teeth are often a distinctive finding. The inheritance pattern of this disorder has been postulated to be autosomal recessive, although a specific gene has not been identified. Here we report an infant with the characteristic phenotypic features of Wiedemann-Rautenstrauch syndrome in whom exome sequencing identified two pathogenic variants in POLR3A: c.1909+18G>A; p.(Y637Cfs*23) and c.2617C>T; p.(R873*). Mutations in POLR3A (OMIM #614258) are associated with 4H leukodystrophy syndrome characterized by the triad of hypomyelination, hypodontia, and hypogonadotrophic hypogonadism. The present patient's genotype implies a broader phenotypic range for POLR3A mutations and might expand the clinical spectrum. This proband is notable because she had two null pathogenic variants. Replication in other patients clinically diagnosed with Wiedemann-Rautenstrauch syndrome is needed to further demonstrate this gene-disease association. © 2016 Wiley Periodicals, Inc.

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Section: Introductionmentioning

confidence: 99%

Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A

Jay

Conway

Thiffault

et al. 2016

American J of Med Genetics Pt A

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“…Характерными фенотипическими особенностями данного заболевания являются выраженная задержка роста в антенатальном и постнатальном периодах, низкая масса тела при рождении, псевдогидроцефалия, генерализованная липодистрофия, сухая морщинистая кожа, выраженные вены на голове, треугольное лицо с клювовидным носом и глубоко посаженными глазами. По мере взросления ребенка внешний вид его не изменяется [10,11]. Помимо основных признаков синдрома, нередко наблюдаются дислипидемия, гиперпролактинемия, гипотиреоз, различные скелетные аномалии -врожденная дисплазия бедра, длинные (марфаноподобные) пальцы, чрезмерные суставные контрактуры, ригидность и слабость в суставах, прогрессирующий кифосколиоз, отставание костного возраста от паспортного [12].…”

Section: неонатальный прогероидный синдромunclassified

Hereditary syndromes with signs of premature aging

et al. 2020

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Aging is a multi-factor biological process that inevitably affects everyone. Degenerative processes, starting at the cellular and molecular levels, gradually influence the change in the functional capabilities of all organs and systems. Progeroid syndromes (from Greek. progērōs prematurely old), or premature aging syndromes, represent clinically and genetically heterogeneous group of rare hereditary diseases characterized by accelerated aging of the body. Progeria and segmental progeroid syndromes include more than a dozen diseases, but the most clear signs of premature aging are evident in Hutchinson-Guilford Progeria Syndrome and Werner Syndrome. This review summarizes the latest scientific data reflecting the etiology and clinical picture of progeria and segmental progeroid syndromes in humans. Molecular mechanisms of aging are considered, using the example of progeroid syndromes. Modern possibilities and potential ways of influencing the mechanisms of the development of age-related changes are discussed. Further study of genetic causes, as well as the development of treatment for progeria and segmental progeroid syndromes, may be a promising direction for correcting age-related changes and increasing life expectancy.

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Wiedemann–Rautenstrauch syndrome: A phenotype analysis

Paolacci

Bertola

Franco

et al. 2017

American J of Med Genetics Pt A

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Wiedemann-Rautenstrauch syndrome (WRS) is a neonatal progeroid disorder characterized by growth retardation, lipodystrophy, a distinctive face, and dental anomalies. Patients reported to date demonstrate a remarkable variability in phenotype, which hampers diagnostics. We performed a literature search, and analyzed 51 reported patients, using the originally reported patients as "gold standard." In 15 patients sufficient information and photographic evidence was available to confirm the clinical diagnosis. In 12 patients the diagnosis was suggestive but lack of data prevented a definite diagnosis, and in 24 patients an alternative diagnosis was likely. Core manifestations of the syndrome are marked pre-natal and severe post-natal growth retardation, an unusual face (triangular shape, sparse hair, small mouth, pointed chin), dental anomalies (natal teeth; hypodontia), generalized lipodystrophy with localized fat masses, and-in some cases-progressive ataxia and tremor. It has been suggested that the syndrome might be caused by biallelic variants in POLR3A, identified by exome sequencing in a single patient only. Therefore, we compared the WRS phenotype with characteristics of conditions known to be caused by autosomal recessively inherited POLR3A mutations. There are major differences but there are also similarities in phenotype, which sustain the suggestion that the syndrome can be caused by disturbed POLR3A functioning.

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Wiedemann–Rautenstrauch syndrome prenatal diagnosis

Cited by 4 publications

References 15 publications

Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A

Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A

Hereditary syndromes with signs of premature aging

Wiedemann–Rautenstrauch syndrome: A phenotype analysis

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