Abnormalities in pharyngeal arch-derived structures in SATB2-associated syndrome
Clin Genet. 2024 May 1. doi: 10.1111/cge.14540. Online ahead of print.ABSTRACTSATB2-associated syndrome (SAS, glass syndrome, OMIM#612313) is a neurodevelopmental autosomal dominant disorder with frequent craniofacial abnormalities including palatal and dental anomalies. To assess the role of Satb2 in craniofacial development, we analyzed mutant mice at different stages of development. Here, we show that Satb2 is broadly expressed in early embryonic mouse development including the mesenchyme of the second and third arches. Satb2-/- mutant mice exhibit microglossia, a shortened lower jaw, smaller trigeminal ganglia, and lar...
Source: Clinical Genetics - May 2, 2024 Category: Genetics & Stem Cells Authors: Yuri A Zarate Katherine Bosanko Nada Derar Jennifer L Fish Source Type: research
Heritability of cancers in Japanese population: Estimation from recent cohort data
Clin Genet. 2024 Apr 29. doi: 10.1111/cge.14535. Online ahead of print.ABSTRACTCancers are genetically categorized into common diseases showing a so-called multifactorial inheritance except for rare familial cancers. And as a measure to estimate the strength of genetic factors in the multifactorial diseases, heritability (h2) is generally used. However, there have been few reports on the estimation of heritability for cancers. We calculated the heritability from the incidence in subject population and the familial recurrence rate in first-degree relatives of the affected for cancers quoting the data from a large-scale pros...
Source: Clinical Genetics - April 30, 2024 Category: Genetics & Stem Cells Authors: Yoshiro Nagao Kei Takeshita Source Type: research
Heritability of cancers in Japanese population: Estimation from recent cohort data
Clin Genet. 2024 Apr 29. doi: 10.1111/cge.14535. Online ahead of print.ABSTRACTCancers are genetically categorized into common diseases showing a so-called multifactorial inheritance except for rare familial cancers. And as a measure to estimate the strength of genetic factors in the multifactorial diseases, heritability (h2) is generally used. However, there have been few reports on the estimation of heritability for cancers. We calculated the heritability from the incidence in subject population and the familial recurrence rate in first-degree relatives of the affected for cancers quoting the data from a large-scale pros...
Source: Clinical Genetics - April 30, 2024 Category: Genetics & Stem Cells Authors: Yoshiro Nagao Kei Takeshita Source Type: research
Syndromic craniosynostosis caused by a novel missense variant in MAP4K4: Expanding the genotype-phenotype relationship in RASopathies
This study reports on a Korean boy harboring a novel de novo missense variant in MAP4K4 (NM_001242559:c.569G>T, p.Gly190Val), revealed by trio exome sequencing, and located in the hotspot of the protein kinase domain. The patient exhibited various clinical features, including craniofacial dysmorphism, language delay, congenital heart defects, genitourinary anomalies, and sagittal craniosynostosis. Our study expands the phenotypic association of the MAP4K4-related disorder to include syndromic craniosynostosis, thereby providing further insights into the role of the RAS/MAPK pathways in the development of premature fusio...
Source: Clinical Genetics - April 29, 2024 Category: Genetics & Stem Cells Authors: Jihoon G Yoon Jung Woo Yu Kyu Won Shim Yong Oock Kim Min Goo Lee Source Type: research
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines
Clin Genet. 2024 Apr 29. doi: 10.1111/cge.14533. Online ahead of print.ABSTRACTThe gold standard for facioscapulohumeral muscular dystrophy (FSHD) genetic diagnostic procedures was published in 2012. With the increasing complexity of the genetics of FSHD1 and 2, the increase of genetic testing centers, and the start of clinical trials for FSHD, it is crucial to provide an update on our knowledge of the genetic features of the FSHD loci and renew the international consensus on the molecular testing recommendations. To this end, members of the FSHD European Trial Network summarized the evidence presented during the 2022 ENMC...
Source: Clinical Genetics - April 29, 2024 Category: Genetics & Stem Cells Authors: Emiliano Giardina Pilar Cama ño Sarah Burton-Jones Gina Ravenscroft Franclo Henning Frederique Magdinier Nienke van der Stoep Patrick J van der Vliet Rafa ëlle Bernard Pedro J Tomaselli Mark R Davis Ichizo Nishino Piraye Oflazer Valerie Race Venugopalan Source Type: research
Syndromic craniosynostosis caused by a novel missense variant in MAP4K4: Expanding the genotype-phenotype relationship in RASopathies
This study reports on a Korean boy harboring a novel de novo missense variant in MAP4K4 (NM_001242559:c.569G>T, p.Gly190Val), revealed by trio exome sequencing, and located in the hotspot of the protein kinase domain. The patient exhibited various clinical features, including craniofacial dysmorphism, language delay, congenital heart defects, genitourinary anomalies, and sagittal craniosynostosis. Our study expands the phenotypic association of the MAP4K4-related disorder to include syndromic craniosynostosis, thereby providing further insights into the role of the RAS/MAPK pathways in the development of premature fusio...
Source: Clinical Genetics - April 29, 2024 Category: Genetics & Stem Cells Authors: Jihoon G Yoon Jung Woo Yu Kyu Won Shim Yong Oock Kim Min Goo Lee Source Type: research
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines
Clin Genet. 2024 Apr 29. doi: 10.1111/cge.14533. Online ahead of print.ABSTRACTThe gold standard for facioscapulohumeral muscular dystrophy (FSHD) genetic diagnostic procedures was published in 2012. With the increasing complexity of the genetics of FSHD1 and 2, the increase of genetic testing centers, and the start of clinical trials for FSHD, it is crucial to provide an update on our knowledge of the genetic features of the FSHD loci and renew the international consensus on the molecular testing recommendations. To this end, members of the FSHD European Trial Network summarized the evidence presented during the 2022 ENMC...
Source: Clinical Genetics - April 29, 2024 Category: Genetics & Stem Cells Authors: Emiliano Giardina Pilar Cama ño Sarah Burton-Jones Gina Ravenscroft Franclo Henning Frederique Magdinier Nienke van der Stoep Patrick J van der Vliet Rafa ëlle Bernard Pedro J Tomaselli Mark R Davis Ichizo Nishino Piraye Oflazer Valerie Race Venugopalan Source Type: research
Usmani-Riazuddin syndrome can have a recognizable phenotype: Report of a novel AP1G1 variant
In this report, we describe this syndrome for the second time, in association to a novel AP1G1 variant identified in a toddler with multisystemic involvement including intellectual disability, speech and developmental delay, behavioral anomalies, arrhythmias, hearing loss, skin changes, and limb defects. Next generation sequencing (NGS) analysis through clinical exome disclosed AP1G1: c.1969C>G (p.Leu657Val), de novo, likely pathogenic variant, according to ACMG classification criteria. Proband's facial features resembled the spectrum of chromatinopathies. Clinical pictures were analyzed and a clinical overlap was suppo...
Source: Clinical Genetics - April 26, 2024 Category: Genetics & Stem Cells Authors: Maria Gnazzo Giulia Pascolini Giovanni Parlapiano Francesco Petrizzelli Daniele Perrino Luigina Porco Andrea Bartuli Antonio Novelli Anwar Baban Source Type: research
Usmani-Riazuddin syndrome can have a recognizable phenotype: Report of a novel AP1G1 variant
In this report, we describe this syndrome for the second time, in association to a novel AP1G1 variant identified in a toddler with multisystemic involvement including intellectual disability, speech and developmental delay, behavioral anomalies, arrhythmias, hearing loss, skin changes, and limb defects. Next generation sequencing (NGS) analysis through clinical exome disclosed AP1G1: c.1969C>G (p.Leu657Val), de novo, likely pathogenic variant, according to ACMG classification criteria. Proband's facial features resembled the spectrum of chromatinopathies. Clinical pictures were analyzed and a clinical overlap was suppo...
Source: Clinical Genetics - April 26, 2024 Category: Genetics & Stem Cells Authors: Maria Gnazzo Giulia Pascolini Giovanni Parlapiano Francesco Petrizzelli Daniele Perrino Luigina Porco Andrea Bartuli Antonio Novelli Anwar Baban Source Type: research
Usmani-Riazuddin syndrome can have a recognizable phenotype: Report of a novel AP1G1 variant
In this report, we describe this syndrome for the second time, in association to a novel AP1G1 variant identified in a toddler with multisystemic involvement including intellectual disability, speech and developmental delay, behavioral anomalies, arrhythmias, hearing loss, skin changes, and limb defects. Next generation sequencing (NGS) analysis through clinical exome disclosed AP1G1: c.1969C>G (p.Leu657Val), de novo, likely pathogenic variant, according to ACMG classification criteria. Proband's facial features resembled the spectrum of chromatinopathies. Clinical pictures were analyzed and a clinical overlap was suppo...
Source: Clinical Genetics - April 26, 2024 Category: Genetics & Stem Cells Authors: Maria Gnazzo Giulia Pascolini Giovanni Parlapiano Francesco Petrizzelli Daniele Perrino Luigina Porco Andrea Bartuli Antonio Novelli Anwar Baban Source Type: research
Pediatric acute promyelocytic leukemia and Fanconi anemia: Case report and literature review
We report a 4 year-old boy from non-consanguineous parents diagnosed with standard risk APL. This child had café-au-lait spots and an extra thumb remnant. Genomic sequencing revealed two PV in FANCD1/BRCA2 confirming a diagnosis of FA-D1. Chromosomal breakage studies were compatible with FA. Each parent carried one variant and had no personal history of cancer. Morphological then molecular remissions were achieved with all-trans retinoic acid and Arsenic trioxide. This patient underwent haploidentical stem cell transplant. In addition to our patient, a literature search revealed four additional patients with APL/FA, with ...
Source: Clinical Genetics - April 24, 2024 Category: Genetics & Stem Cells Authors: Claire Freycon Edith Sepulchre Vincent-Philippe Lavall ée David Mitchell Margaret L MacMillan Catherine Vezina Catherine Goudie Source Type: research
Pediatric acute promyelocytic leukemia and Fanconi anemia: Case report and literature review
We report a 4 year-old boy from non-consanguineous parents diagnosed with standard risk APL. This child had café-au-lait spots and an extra thumb remnant. Genomic sequencing revealed two PV in FANCD1/BRCA2 confirming a diagnosis of FA-D1. Chromosomal breakage studies were compatible with FA. Each parent carried one variant and had no personal history of cancer. Morphological then molecular remissions were achieved with all-trans retinoic acid and Arsenic trioxide. This patient underwent haploidentical stem cell transplant. In addition to our patient, a literature search revealed four additional patients with APL/FA, with ...
Source: Clinical Genetics - April 24, 2024 Category: Genetics & Stem Cells Authors: Claire Freycon Edith Sepulchre Vincent-Philippe Lavall ée David Mitchell Margaret L MacMillan Catherine Vezina Catherine Goudie Source Type: research
Expanding the understanding of telomere biology disorder with reports from two families harboring variants in ZCCHC8 and TERC
In this report, we present two families, one with a pathogenic variant in ZCCHC8 and another with a novel variant in TERC. In the literature, only one family has previously been reported with a ZCCHC8 variant and TBD symptoms. This family had multiple occurrences of pulmonary fibrosis and one case of bone marrow failure. In this paper, we present a second family with the same ZCCHC8 variant (p.Pro186Leu) and symptoms of TBD including pulmonary fibrosis, hematological disease, and elevated liver enzymes. The suspicion of TBD was confirmed with the measurement of short telomeres in the proband. In another family, we report a...
Source: Clinical Genetics - April 12, 2024 Category: Genetics & Stem Cells Authors: Nikolaj Juul Nitschke Anne Marie Jelsig Charlotte Lautrup Malene Lundsgaard Marianne Tang Severinsen Jack Bernard Cowland Lisa Leth Maroun Mette Klarskov Andersen Kirsten Gr ønbæk Source Type: research
Expanding the understanding of telomere biology disorder with reports from two families harboring variants in ZCCHC8 and TERC
In this report, we present two families, one with a pathogenic variant in ZCCHC8 and another with a novel variant in TERC. In the literature, only one family has previously been reported with a ZCCHC8 variant and TBD symptoms. This family had multiple occurrences of pulmonary fibrosis and one case of bone marrow failure. In this paper, we present a second family with the same ZCCHC8 variant (p.Pro186Leu) and symptoms of TBD including pulmonary fibrosis, hematological disease, and elevated liver enzymes. The suspicion of TBD was confirmed with the measurement of short telomeres in the proband. In another family, we report a...
Source: Clinical Genetics - April 12, 2024 Category: Genetics & Stem Cells Authors: Nikolaj Juul Nitschke Anne Marie Jelsig Charlotte Lautrup Malene Lundsgaard Marianne Tang Severinsen Jack Bernard Cowland Lisa Leth Maroun Mette Klarskov Andersen Kirsten Gr ønbæk Source Type: research
Expanding the understanding of telomere biology disorder with reports from two families harboring variants in ZCCHC8 and TERC
In this report, we present two families, one with a pathogenic variant in ZCCHC8 and another with a novel variant in TERC. In the literature, only one family has previously been reported with a ZCCHC8 variant and TBD symptoms. This family had multiple occurrences of pulmonary fibrosis and one case of bone marrow failure. In this paper, we present a second family with the same ZCCHC8 variant (p.Pro186Leu) and symptoms of TBD including pulmonary fibrosis, hematological disease, and elevated liver enzymes. The suspicion of TBD was confirmed with the measurement of short telomeres in the proband. In another family, we report a...
Source: Clinical Genetics - April 12, 2024 Category: Genetics & Stem Cells Authors: Nikolaj Juul Nitschke Anne Marie Jelsig Charlotte Lautrup Malene Lundsgaard Marianne Tang Severinsen Jack Bernard Cowland Lisa Leth Maroun Mette Klarskov Andersen Kirsten Gr ønbæk Source Type: research
