Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome
In this study, a molecular and clinical analysis was carried out in eight Polish patients with the Costello phenotype. A molecular test showed two known heterozygous mutations in the first coding exon of the gene in seven patients: p.G12S (n=4) and p.G12A (n=3), and a novel pathogenic variant p.G60V in one child with an unusually severe, lethal course of the syndrome. In addition, a fatal course of CS was present in one patient with the p.G12A mutation and in another with p.G12S, there was a co-occurrence of Turner syndrome because of the distal Xp deletion. A severe clinical manifestation with a lethal outcome in an indiv...
Source: Clinical Dysmorphology - March 6, 2017 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Genitourinary malformations: an under-recognized feature of ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome
This report details a further two patients with EEC syndrome and genitourinary involvement, including flaccid megacystis with detrusor muscle failure, bilateral hydronephrosis and megaureter, requiring significant renal and urological involvement during their childhood. We go on to review the literature on the diagnosis and management of genitourinary malformations in EEC syndrome. (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 6, 2017 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Expansion of the phenotypic spectrum in three families of methyl CpG-binding protein 2 duplication syndrome
The methyl CpG-binding protein 2 duplication syndrome (OMIM #300260) is characterized by hypotonia, developmental delay, spasticity, seizures, and recurrent infections. It is fully penetrant in males and the females can have varied manifestations because of skewed X-inactivation. The size of the duplication can range from 0.2 Mb to over 100 Mb. Around 150 cases have been reported in the literature so far. Here, we report the unusual findings in three cases such as hepatomegaly, ataxia and females with mild intellectual disability that further expand the phenotypic spectrum of this disorder. This paper also stresses the...
Source: Clinical Dysmorphology - March 6, 2017 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
A new case series of Crisponi syndrome in a Turkish family and review of the literature
We report here on three patients from two related families harboring a homozygous mutation in the cytokine receptor-like factor-1 (CRLF1) gene. DNA samples of the three patients and their parents were subjected to a mutational analysis of the CRLF1 gene at the Institute of Biomedical and Genetic Research – National Research Council, Cagliari (Italy). Direct sequencing of the nine coding exons and surrounding intronic regions of CRLF1 was performed using specific primers. All three patients were found to be homozygotes for the mutation c.708_709delinsT, which leads to a frameshift in the second fibronectin type III domain...
Source: Clinical Dysmorphology - March 6, 2017 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Novel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndrome
This report provides additional evidence in support of the rich variability in phenotypic expression, the mutational heterogeneity and ethnic diversity associated with this rare condition. (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 6, 2017 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
