A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2

Abstract

We report on a Palestinian family with three affected individuals exhibiting progeroid syndrome characterized by intrauterine growth retardation, a progeroid appearance, failure to thrive, short stature, and hypotonia. The progeroid features were evident at birth. All the affected members of this family have survived beyond the neonatal period and one of them is currently a 27-year-old adult. As parental consanguinity suggested an autosomal recessive mode of inheritance, we employed homozygosity mapping using single nucleotide polymorphism arrays followed by next generation whole exome sequencing to identify the disease-causing gene. We were able to identify a single block of homozygosity shared between all the affected members of the studied family spanning 2.3 Mb on chromosome 19p13.3p13.2. However, Sanger sequencing of known genes and whole exome sequencing of the three affected sibs did not reveal a convincing causal mutation. These findings are anticipated to open the way for the identification of the molecular causes underlying this syndrome.

Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome

“…Most of the presently reported families and patients have been published (patients have the full number; parents are indicated by this number followed by b for father and c for mother): WRS001, 6 WRS005, 6 WRS0012, 6 WRS002 (patient number 2 in the report of Rautenstrauch and Snigula in 1977),17 WRS003 (German origin, unpublished), WRS004,18 WRS006b and WRS006c (father and mother, respectively, of patients number 1 and 2 in the Arboleda’s report of 1997),19 WRS007, WRS008, WRS009 (patients number 1, 2 and 3 in the report of Morales et al ),20 WRS010b and WRS10c (father and mother, respectively, of three affected sibs)21 and WRS011 (Colombian origin, unpublished). In total, we studied 12 families and 15 affected patients.…”

A Case of Wiedemann-Rautenstrauch Syndrome With Fatal Hyperkalemic Renal Faliure

“…Table 1 shows a comparison between the clinical features of our case and some of the previously reported cases. The average survival in WRS is seven months, although survival into the third decade of life has been reported [12]. WRS patients have a short life expectancy due to malnutrition (leading to hypolipidemia and hypoalbuminemia) or after severe infection [13], but no previously reported cases of death due to hyperkalemia or renal failure.…”

Синдром Відемана — Раутенштрауха (Неонатальний Прогероїдний Синдром): Клінічне Спостереження Та Короткий Огляд Літератури

“…[4], один пациент -24 мес. [31]. Основ-ными причинами смерти таких детей являются проблемы с сердцем или инсульт.…”

“…Таким образом, синдром Видемана -Раутен-штрауха -очень редкая врожденная патология, которая наблюдается в различных странах мира [4,6,20,22,31,33], причем наблюдаются как единич-ные случаи в семье, так и повторение заболевания в одной семье у братьев/сестер, а также в семьях, где родители были кровными родственниками или не состояли в родстве [9]. Большинство исследовате-лей склоняются к аутосомно-рецессивной природе заболевания.…”