The third case of Marbach-Rustad progeroid syndrome caused by a de novo LEMD2 variant
Clin Genet. 2023 Oct 23. doi: 10.1111/cge.14441. Online ahead of print.ABSTRACTMarbach-Rustad progeroid syndrome is an extremely rare disease caused by a heterozygous variant in the LEMD2 gene. To date, only two patients and one LEMD2 pathogenic variant have been reported in Marbach-Rustad progeroid syndrome. Here we describe the third case of Marbach-Rustad progeroid syndrome worldwide, which is also the first case in China. The proband was affected with premature birth, failed to thrive, facial abnormalities, feeding difficulties, skull defects and delayed motor milestones, but had a normal intelligence and speech. Whole...
Source: Clinical Genetics - October 23, 2023 Category: Genetics & Stem Cells Authors: Zhikun Lu Wen Zhang Xiaojian Mao Duan Li Xiaodan Chen Li Liu Yunting Lin Source Type: research
The third case of Marbach-Rustad progeroid syndrome caused by a de novo LEMD2 variant
Clin Genet. 2023 Oct 23. doi: 10.1111/cge.14441. Online ahead of print.ABSTRACTMarbach-Rustad progeroid syndrome is an extremely rare disease caused by a heterozygous variant in the LEMD2 gene. To date, only two patients and one LEMD2 pathogenic variant have been reported in Marbach-Rustad progeroid syndrome. Here we describe the third case of Marbach-Rustad progeroid syndrome worldwide, which is also the first case in China. The proband was affected with premature birth, failed to thrive, facial abnormalities, feeding difficulties, skull defects and delayed motor milestones, but had a normal intelligence and speech. Whole...
Source: Clinical Genetics - October 23, 2023 Category: Genetics & Stem Cells Authors: Zhikun Lu Wen Zhang Xiaojian Mao Duan Li Xiaodan Chen Li Liu Yunting Lin Source Type: research
The third case of Marbach-Rustad progeroid syndrome caused by a de novo LEMD2 variant
Clin Genet. 2023 Oct 23. doi: 10.1111/cge.14441. Online ahead of print.ABSTRACTMarbach-Rustad progeroid syndrome is an extremely rare disease caused by a heterozygous variant in the LEMD2 gene. To date, only two patients and one LEMD2 pathogenic variant have been reported in Marbach-Rustad progeroid syndrome. Here we describe the third case of Marbach-Rustad progeroid syndrome worldwide, which is also the first case in China. The proband was affected with premature birth, failed to thrive, facial abnormalities, feeding difficulties, skull defects and delayed motor milestones, but had a normal intelligence and speech. Whole...
Source: Clinical Genetics - October 23, 2023 Category: Genetics & Stem Cells Authors: Zhikun Lu Wen Zhang Xiaojian Mao Duan Li Xiaodan Chen Li Liu Yunting Lin Source Type: research
Clinical exome sequencing reveals a novel pathogenic variant in KIF12 underlying cholestasis with highly variable phenotypes
Clin Genet. 2023 Oct 22. doi: 10.1111/cge.14444. Online ahead of print.ABSTRACTFour affected individuals from a large consanguineous family were diagnosed with variable phenotypes of cholestasis based on their clinical laboratory and biopsy findings. Cholestasis is a condition when there is not enough bile flow between liver and small intestine. Two of the affected individuals (IV-1, IV-4) died of cholestatic liver at an early age, while the other two patients are alive with chronic liver disease. Clinical exome and Sanger sequencing identified a novel homozygous pathogenic variant (c.482-7_500del) in the patients.PMID:378...
Source: Clinical Genetics - October 22, 2023 Category: Genetics & Stem Cells Authors: Nadia Waheed Rehmana Waris Maryam Naseer Ayesha Razzaq Sufyan Suleman Asmat Ullah Source Type: research
RIPOR2: A new gene of non-syndromic cochleovestibular dysfunction, discrepancy between human pathology and animal models
Clin Genet. 2023 Oct 21. doi: 10.1111/cge.14436. Online ahead of print.ABSTRACTCochleovestibular dysfunctions are rare conditions misrecognized. A homozygous pathogenic variation c.1561C > T (p.Arg521*) in RIPOR2 (RHO family interacting cell polarization regulator 2) has been identified by WES in Tunisian siblings suffering from congenital bilateral profound hearing and vestibular dysfunctions. In contrast to the vestibular areflexia observed in our patients, deaf Ripor2 KO mouse model and our zebrafish model have normal vestibular function.PMID:37864412 | DOI:10.1111/cge.14436 (Source: Clinical Genetics)
Source: Clinical Genetics - October 21, 2023 Category: Genetics & Stem Cells Authors: Godelieve Morel Sylvain Ernest Margaux Serey-Gaut Laurence Jonard Abeke Ralyath Balogoun Marine Parodi Natalie Loundon Sophie Achard Sandrine Marlin Source Type: research
RIPOR2: A new gene of non-syndromic cochleovestibular dysfunction, discrepancy between human pathology and animal models
Clin Genet. 2023 Oct 21. doi: 10.1111/cge.14436. Online ahead of print.ABSTRACTCochleovestibular dysfunctions are rare conditions misrecognized. A homozygous pathogenic variation c.1561C > T (p.Arg521*) in RIPOR2 (RHO family interacting cell polarization regulator 2) has been identified by WES in Tunisian siblings suffering from congenital bilateral profound hearing and vestibular dysfunctions. In contrast to the vestibular areflexia observed in our patients, deaf Ripor2 KO mouse model and our zebrafish model have normal vestibular function.PMID:37864412 | DOI:10.1111/cge.14436 (Source: Clinical Genetics)
Source: Clinical Genetics - October 21, 2023 Category: Genetics & Stem Cells Authors: Godelieve Morel Sylvain Ernest Margaux Serey-Gaut Laurence Jonard Abeke Ralyath Balogoun Marine Parodi Natalie Loundon Sophie Achard Sandrine Marlin Source Type: research
Perspectives of carriers of X-linked retinal diseases on genetic testing and gene therapy: A global survey
This study aimed to investigate carriers' experiences of genetic testing, emotions relating to having affected children, and their knowledge regarding genetic testing and gene therapy. An online survey was advertised to self-identified carriers worldwide. Two hundred and twenty-eight carriers completed the survey with mean age of 51 years (SD ± 15.0). A majority of respondents resided in the United States of America (51%), Australia (19%), and the United Kingdom (14%). Most carriers identified with feelings of guilt (70%), concern (91%), and anxiety (88%) for their child. Female carriers who had given birth to children ha...
Source: Clinical Genetics - October 20, 2023 Category: Genetics & Stem Cells Authors: Sena A Gocuk Thomas L Edwards Jasleen K Jolly Lauren N Ayton Source Type: research
Perspectives of carriers of X-linked retinal diseases on genetic testing and gene therapy: A global survey
This study aimed to investigate carriers' experiences of genetic testing, emotions relating to having affected children, and their knowledge regarding genetic testing and gene therapy. An online survey was advertised to self-identified carriers worldwide. Two hundred and twenty-eight carriers completed the survey with mean age of 51 years (SD ± 15.0). A majority of respondents resided in the United States of America (51%), Australia (19%), and the United Kingdom (14%). Most carriers identified with feelings of guilt (70%), concern (91%), and anxiety (88%) for their child. Female carriers who had given birth to children ha...
Source: Clinical Genetics - October 20, 2023 Category: Genetics & Stem Cells Authors: Sena A Gocuk Thomas L Edwards Jasleen K Jolly Lauren N Ayton Source Type: research
The best of both worlds: Blending cutting-edge research with clinical processes for a productive exome clinic
Clin Genet. 2023 Oct 18. doi: 10.1111/cge.14437. Online ahead of print.ABSTRACTGenomic medicine has been transformed by next-generation sequencing (NGS), inclusive of exome sequencing (ES) and genome sequencing (GS). Currently, ES is offered widely in clinical settings, with a less prevalent alternative model consisting of hybrid programs that incorporate research ES along with clinical patient workflows. We were among the earliest to implement a hybrid ES clinic, have provided diagnoses to 45% of probands, and have identified several novel candidate genes. Our program is enabled by a cost-effective investment by the healt...
Source: Clinical Genetics - October 19, 2023 Category: Genetics & Stem Cells Authors: Jennifer A Sullivan Rebecca C Spillmann Kelly Schoch Nicole Walley Anna Alkelai Nicholas Stong Patrick R Shea Slav è Petrovski Vaidehi Jobanputra Allyn McConkie-Rosell Vandana Shashi Source Type: research
Genetic backgrounds and diagnosis of familial hypercholesterolemia
Clin Genet. 2023 Oct 17. doi: 10.1111/cge.14435. Online ahead of print.ABSTRACTLipid disorders play a critical role in the intricate development of atherosclerosis and its clinical consequences, such as coronary heart disease and stroke. These disorders are responsible for a significant number of deaths in many adult populations worldwide. Familial hypercholesterolemia (FH) is a genetic disorder that causes extremely high levels of LDL cholesterol. The most common mutations occur in genes responsible for low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), or proprotein convertase subtilisin/kexin type 9 (PCSK...
Source: Clinical Genetics - October 18, 2023 Category: Genetics & Stem Cells Authors: Joanna Rogozik Renata G łówczyńska Marcin Grabowski Source Type: research
Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature
We report the third case of FADS due to biallelic DOK7 variants, which further strengthens the association of DOK7 with this lethal phenotype and lack of genotype phenotype correlation.PMID:37849383 | DOI:10.1111/cge.14431 (Source: Clinical Genetics)
Source: Clinical Genetics - October 18, 2023 Category: Genetics & Stem Cells Authors: Amit K Tiwari Varunvenkat M Srinivasan Shubha R Phadke Deepti Saxena Source Type: research
Adding to the evidence of gene-disease association of RAP1B and syndromic thrombocytopenia
Clin Genet. 2023 Oct 18. doi: 10.1111/cge.14438. Online ahead of print.ABSTRACTSyndromic constitutive thrombocytopenia encompasses a heterogeneous group of disorders characterised by quantitative and qualitative defects of platelets while featuring other malformations. Recently, heterozygous, de novo variants in RAP1B were reported in three cases of syndromic thrombocytopenia. Here, we report two additional, unrelated individuals identified retrospectively in our data repository with heterozygous variants in RAP1B: NM_001010942.2(RAP1B):c.35G>A, p.(Gly12Glu) (de novo) and NM_001010942.2(RAP1B):c.178G>A, p.(Gly60Arg)....
Source: Clinical Genetics - October 18, 2023 Category: Genetics & Stem Cells Authors: Luba M Pardo Ruxandra Aanicai Emir Zonic Anna H Hakonen Susan Zielske Peter Bauer Aida M Bertoli-Avella Source Type: research
Genetic backgrounds and diagnosis of familial hypercholesterolemia
Clin Genet. 2023 Oct 17. doi: 10.1111/cge.14435. Online ahead of print.ABSTRACTLipid disorders play a critical role in the intricate development of atherosclerosis and its clinical consequences, such as coronary heart disease and stroke. These disorders are responsible for a significant number of deaths in many adult populations worldwide. Familial hypercholesterolemia (FH) is a genetic disorder that causes extremely high levels of LDL cholesterol. The most common mutations occur in genes responsible for low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), or proprotein convertase subtilisin/kexin type 9 (PCSK...
Source: Clinical Genetics - October 18, 2023 Category: Genetics & Stem Cells Authors: Joanna Rogozik Renata G łówczyńska Marcin Grabowski Source Type: research
Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature
We report the third case of FADS due to biallelic DOK7 variants, which further strengthens the association of DOK7 with this lethal phenotype and lack of genotype phenotype correlation.PMID:37849383 | DOI:10.1111/cge.14431 (Source: Clinical Genetics)
Source: Clinical Genetics - October 18, 2023 Category: Genetics & Stem Cells Authors: Amit K Tiwari Varunvenkat M Srinivasan Shubha R Phadke Deepti Saxena Source Type: research
Adding to the evidence of gene-disease association of RAP1B and syndromic thrombocytopenia
Clin Genet. 2023 Oct 18. doi: 10.1111/cge.14438. Online ahead of print.ABSTRACTSyndromic constitutive thrombocytopenia encompasses a heterogeneous group of disorders characterised by quantitative and qualitative defects of platelets while featuring other malformations. Recently, heterozygous, de novo variants in RAP1B were reported in three cases of syndromic thrombocytopenia. Here, we report two additional, unrelated individuals identified retrospectively in our data repository with heterozygous variants in RAP1B: NM_001010942.2(RAP1B):c.35G>A, p.(Gly12Glu) (de novo) and NM_001010942.2(RAP1B):c.178G>A, p.(Gly60Arg)....
Source: Clinical Genetics - October 18, 2023 Category: Genetics & Stem Cells Authors: Luba M Pardo Ruxandra Aanicai Emir Zonic Anna H Hakonen Susan Zielske Peter Bauer Aida M Bertoli-Avella Source Type: research
