scholarly journals Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet–Biedl family

2013 ◽  
Vol 2 (2) ◽  
pp. 124-133 ◽  
Author(s):  
María González‐del Pozo ◽  
Cristina Méndez‐Vidal ◽  
Javier Santoyo‐Lopez ◽  
Alicia Vela‐Boza ◽  
Nereida Bravo‐Gil ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Phenotypic Variability ◽  
Intrafamilial Phenotypic Variability

scholarly journals The Contursi Family 20 Years Later: Intrafamilial Phenotypic Variability of the SNCA p.A53T Mutation

2016 ◽  
Vol 31 (2) ◽  
pp. 257-258 ◽  
Author(s):  
Lucia Ricciardi ◽  
Simona Petrucci ◽  
Daniela Di Giuda ◽  
Laura Serra ◽  
Barbara Spanò ◽  
...  
Keyword(s):  
Phenotypic Variability ◽  
Intrafamilial Phenotypic Variability

scholarly journals Striking Cardiac Phenotypic Variability in A Chinese Family With A MYH7 Splice Site Mutation

2021 ◽  
Author(s):  
Peng Tu ◽  
Hairui Sun ◽  
Xiaohang Zhang ◽  
Qian Ran ◽  
suzhen Ran ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Splice Site ◽  
Phenotypic Variability ◽  
Splice Site Mutation ◽  
Left Ventricular ◽  
Chinese Family ◽  
Site Mutation ◽  
Cardiac Phenotype ◽  
Whole Exome

Abstract Background: Left ventricular non-compaction cardiomyopathy (LVNC) is a rare congenital heart defect (CHD), genetics defects have been found in patients with LVNC and their family members; and MYH7 is the most common genetic associated with LVNC. Methods: A trio (fetus and the parents) whole-exome sequencing (WES) was performed when the fetus was found with Ebstein's anomaly (EA), heart dilatation, perimembranous ventricular septal defects (VSD), mild seroperitoneum and single umbilical artery (SUA).Results: Whole-exome sequencing identified a maternal inherited heterozygous splice site mutation in MYH7 (NM_000257.3:c.732+1G>A). Subsequent Sanger sequencing confirmed that the mutation was heterozygous in the fetus, the old sister, the grandmother, and the mother. QPCR experiment using RNA from blood lymphocytes but were unable to amplify any product.Conclusion: This familial case underlines that the striking cardiac phenotypic of MYH7 mutation (the c.732+1G>A spice site variant) may be highly variable. The mechanistic studies which could uncover candidate genes modulating cardiac phenotype associated with LVNC/EA should be proceed.

Striking intrafamilial phenotypic variability and spastic paraplegia in the presence of similar homozygous expansions of theFRDA1gene

2004 ◽  
Vol 19 (12) ◽  
pp. 1424-1431 ◽  
Author(s):  
AmanPreet Badhwar ◽  
An Jansen ◽  
Frederick Andermann ◽  
Massimo Pandolfo ◽  
Eva Andermann
Keyword(s):  
Phenotypic Variability ◽  
Spastic Paraplegia ◽  
Intrafamilial Phenotypic Variability

Saethre-Chotzen syndrome: Notable intrafamilial phenotypic variability in a large family with Q28XTWIST mutation

2002 ◽  
Vol 109 (3) ◽  
pp. 218-225 ◽  
Author(s):  
H�l�ne Dollfus ◽  
Partha Biswas ◽  
Govindsamy Kumaramanickavel ◽  
Corinne Stoetzel ◽  
Renaud Quillet ◽  
...  
Keyword(s):  
Phenotypic Variability ◽  
Large Family ◽  
Intrafamilial Phenotypic Variability

scholarly journals Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia

2014 ◽  
Vol 22 (10) ◽  
pp. 1160-1164 ◽  
Author(s):  
Christine Hofmann ◽  
Hermann Girschick ◽  
Etienne Mornet ◽  
Doris Schneider ◽  
Franz Jakob ◽  
...  
Keyword(s):  
Phenotypic Variability ◽  
Intrafamilial Phenotypic Variability

Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations

2017 ◽  
Vol 173 (5) ◽  
pp. 1364-1368 ◽  
Author(s):  
Joanna Walczak-Sztulpa ◽  
Anna Wawrocka ◽  
Agata Sobierajewicz ◽  
Lukasz Kuszel ◽  
Jan Zawadzki ◽  
...  
Keyword(s):  
Phenotypic Variability ◽  
Sensenbrenner Syndrome ◽  
Intrafamilial Phenotypic Variability

Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation inRNASEH2C

2013 ◽  
Vol 161 (2) ◽  
pp. 338-342 ◽  
Author(s):  
Julie Vogt ◽  
Shakti Agrawal ◽  
Zala Ibrahim ◽  
Taunton R. Southwood ◽  
Sunny Philip ◽  
...  
Keyword(s):  
Founder Mutation ◽  
Phenotypic Variability ◽  
Intrafamilial Phenotypic Variability
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