European Journal of Medical Genetics 
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Eur J Med Genet. 2024 Apr 30:104945. doi: 10.1016/j.ejmg.2024.104945. Online ahead of print.ABSTRACTTo date 11 patients with Coffin-Siris syndrome type 7 (OMIM 618027) have been described since the first literature report. All reported patients carried de novo variants with presumed dominant negative effect, which localized in the PHD1/PHD2 domains of DPF2. Here we report on the first familial case of Coffin-Siris syndrome type 7. The index patient presented at the age of 1 year with failure to thrive and ectodermal anomalies. The genetic analysis using whole exome sequencing showed a likely pathogenic missense variant in ...
Source: European Journal of Medical Genetics - May 2, 2024 Category: Genetics & Stem Cells Authors: Konstantinos Kolokotronis Aude-Annick Suter Ivan Ivanovski Tanja Frey Angela Bahr Anita Rauch Katharina Steindl Source Type: research
How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype
Eur J Med Genet. 2024 Apr 26;69:104944. doi: 10.1016/j.ejmg.2024.104944. Online ahead of print.ABSTRACTHere we report the case of a young boy with developmental delay, thin sparse hair, early closure of the anterior fontanel, bilateral choanal atresia, brachyturicephaly; and dysmorphic features closely resembling those seen in trichorhinophalangeal syndrome (TRPS). These features include sparse hair, sparse lateral eyebrows, a bulbous pear shaped nose, a long philtrum, thin lips, small/hypoplastic nails, pes planovalgus; bilateral cone-shaped epiphyses at the proximal 5th phalanx, slender long bones, coxa valga, mild scoli...
Source: European Journal of Medical Genetics - April 28, 2024 Category: Genetics & Stem Cells Authors: Andre M égarbané Cybel Mehawej Daniel Mahfoud Eliane Chouery Koenraad Devriendt Mariam Hijazi Seung W Ryu JiHye Kim Alisdair McNeill Source Type: research
Mother and daughter with Kenny-Caffey Syndrome: the adult phenotype
Eur J Med Genet. 2024 Apr 26:104943. doi: 10.1016/j.ejmg.2024.104943. Online ahead of print.ABSTRACTKenny-Caffey Syndrome (KCS) is a genetic syndrome characterized by growth retardation with short stature, cortical thickening and medullary stenosis of long bones, and hypoparathyroidism with hypocalcemia. KCS and the related but more severe condition osteocraniostenosis are determined by monoallelic variants in the FAM111A gene. Here we describe the KCS phenotype resulting from the monoallelic FAM111A variant p.Y511H in a 31-year-old woman and in her 56-year-old mother, who is one of the oldest affected individuals known so...
Source: European Journal of Medical Genetics - April 28, 2024 Category: Genetics & Stem Cells Authors: L Tonelli M Sanchini A Margutti B Buldrini A Superti-Furga A Ferlini R Selvatici S Bigoni Source Type: research
How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype
Eur J Med Genet. 2024 Apr 26:104944. doi: 10.1016/j.ejmg.2024.104944. Online ahead of print.ABSTRACTHere we report the case of a young boy with developmental delay, thin sparse hair, early closure of the anterior fontanel, bilateral choanal atresia, brachyturicephaly; and dysmorphic features closely resembling those seen in trichorhinophalangeal syndrome (TRPS). These features include sparse hair, sparse lateral eyebrows, a bulbous pear shaped nose, a long philtrum, thin lips, small/hypoplastic nails, pes planovalgus; bilateral cone-shaped epiphyses at the proximal 5th phalanx, slender long bones, coxa valga, mild scoliosi...
Source: European Journal of Medical Genetics - April 28, 2024 Category: Genetics & Stem Cells Authors: Andre M égarbané Cybel Mehawej Daniel Mahfoud Eliane Chouery Koenraad Devriendt Mariam Hijazi Seung W Ryu JiHye Kim Alisdair McNeill Source Type: research
Mother and daughter with Kenny-Caffey Syndrome: the adult phenotype
Eur J Med Genet. 2024 Apr 26:104943. doi: 10.1016/j.ejmg.2024.104943. Online ahead of print.ABSTRACTKenny-Caffey Syndrome (KCS) is a genetic syndrome characterized by growth retardation with short stature, cortical thickening and medullary stenosis of long bones, and hypoparathyroidism with hypocalcemia. KCS and the related but more severe condition osteocraniostenosis are determined by monoallelic variants in the FAM111A gene. Here we describe the KCS phenotype resulting from the monoallelic FAM111A variant p.Y511H in a 31-year-old woman and in her 56-year-old mother, who is one of the oldest affected individuals known so...
Source: European Journal of Medical Genetics - April 28, 2024 Category: Genetics & Stem Cells Authors: L Tonelli M Sanchini A Margutti B Buldrini A Superti-Furga A Ferlini R Selvatici S Bigoni Source Type: research
How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype
Eur J Med Genet. 2024 Apr 26:104944. doi: 10.1016/j.ejmg.2024.104944. Online ahead of print.ABSTRACTHere we report the case of a young boy with developmental delay, thin sparse hair, early closure of the anterior fontanel, bilateral choanal atresia, brachyturicephaly; and dysmorphic features closely resembling those seen in trichorhinophalangeal syndrome (TRPS). These features include sparse hair, sparse lateral eyebrows, a bulbous pear shaped nose, a long philtrum, thin lips, small/hypoplastic nails, pes planovalgus; bilateral cone-shaped epiphyses at the proximal 5th phalanx, slender long bones, coxa valga, mild scoliosi...
Source: European Journal of Medical Genetics - April 28, 2024 Category: Genetics & Stem Cells Authors: Andre M égarbané Cybel Mehawej Daniel Mahfoud Eliane Chouery Koenraad Devriendt Mariam Hijazi Seung W Ryu JiHye Kim Alisdair McNeill Source Type: research
Mother and daughter with Kenny-Caffey Syndrome: the adult phenotype
Eur J Med Genet. 2024 Apr 26:104943. doi: 10.1016/j.ejmg.2024.104943. Online ahead of print.ABSTRACTKenny-Caffey Syndrome (KCS) is a genetic syndrome characterized by growth retardation with short stature, cortical thickening and medullary stenosis of long bones, and hypoparathyroidism with hypocalcemia. KCS and the related but more severe condition osteocraniostenosis are determined by monoallelic variants in the FAM111A gene. Here we describe the KCS phenotype resulting from the monoallelic FAM111A variant p.Y511H in a 31-year-old woman and in her 56-year-old mother, who is one of the oldest affected individuals known so...
Source: European Journal of Medical Genetics - April 28, 2024 Category: Genetics & Stem Cells Authors: L Tonelli M Sanchini A Margutti B Buldrini A Superti-Furga A Ferlini R Selvatici S Bigoni Source Type: research
From biology to personalized medicine: recent knowledge in Osteosarcoma
Eur J Med Genet. 2024 Apr 25:104941. doi: 10.1016/j.ejmg.2024.104941. Online ahead of print.ABSTRACTHigh-grade osteosarcoma is the most common paediatric bone cancer. More than one third of patients relapse and die of osteosarcoma using current chemotherapeutic and surgical strategies. To improve outcomes in osteosarcoma, two crucial challenges need to be tackled: 1-the identification of hard-to-treat disease, ideally from diagnosis; 2- choosing the best combined or novel therapies to eradicate tumor cells which are resistant to current therapies leading to disease dissemination and metastasize as well as their favorable m...
Source: European Journal of Medical Genetics - April 27, 2024 Category: Genetics & Stem Cells Authors: Audrey Mohr Maria Eugenia Marques Da Costa Olivia Fromigue Baptiste Audinot Thierno Balde Robin Droit Samuel Abbou Pierre Khneisser Pablo Berlanga Esperanza Perez Antonin Marchais Nathalie Gaspar Source Type: research
PRKD1-related Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: case report and review of the literature
We report on the 8th patient carrying a heterozygous de novo variation of PRKD1 c.2134G>A, p.(Val712Met) identified by trio exome sequencing. The proband presents with partial atrioventricular septal defect, brachydactyly, ectodermal dysplasia, telangiectasia that developed in childhood, intellectual disability with microcephaly, multicystic renal dysplasia and moderate hormonal resistance. In view of this 8th description and review of the literature, it appears that neurodevelopmental disorders and microcephaly are frequently associated with PRKD1 missense variants, adding to the four main clinical signs described init...
Source: European Journal of Medical Genetics - April 27, 2024 Category: Genetics & Stem Cells Authors: Fiona Leduc Thomas Smol Benoit Catteau Odile Boute Florence Petit Source Type: research
From biology to personalized medicine: recent knowledge in Osteosarcoma
Eur J Med Genet. 2024 Apr 25:104941. doi: 10.1016/j.ejmg.2024.104941. Online ahead of print.ABSTRACTHigh-grade osteosarcoma is the most common paediatric bone cancer. More than one third of patients relapse and die of osteosarcoma using current chemotherapeutic and surgical strategies. To improve outcomes in osteosarcoma, two crucial challenges need to be tackled: 1-the identification of hard-to-treat disease, ideally from diagnosis; 2- choosing the best combined or novel therapies to eradicate tumor cells which are resistant to current therapies leading to disease dissemination and metastasize as well as their favorable m...
Source: European Journal of Medical Genetics - April 27, 2024 Category: Genetics & Stem Cells Authors: Audrey Mohr Maria Eugenia Marques Da Costa Olivia Fromigue Baptiste Audinot Thierno Balde Robin Droit Samuel Abbou Pierre Khneisser Pablo Berlanga Esperanza Perez Antonin Marchais Nathalie Gaspar Source Type: research
PRKD1-related Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: case report and review of the literature
We report on the 8th patient carrying a heterozygous de novo variation of PRKD1 c.2134G>A, p.(Val712Met) identified by trio exome sequencing. The proband presents with partial atrioventricular septal defect, brachydactyly, ectodermal dysplasia, telangiectasia that developed in childhood, intellectual disability with microcephaly, multicystic renal dysplasia and moderate hormonal resistance. In view of this 8th description and review of the literature, it appears that neurodevelopmental disorders and microcephaly are frequently associated with PRKD1 missense variants, adding to the four main clinical signs described init...
Source: European Journal of Medical Genetics - April 27, 2024 Category: Genetics & Stem Cells Authors: Fiona Leduc Thomas Smol Benoit Catteau Odile Boute Florence Petit Source Type: research
Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood
Eur J Med Genet. 2024 Apr 15;69:104939. doi: 10.1016/j.ejmg.2024.104939. Online ahead of print.ABSTRACTADH5/ALDH2 deficiency is a rare inherited syndrome characterized by short stature, microcephaly, delayed mental development, and hematopoietic dysfunction and has recently been proposed as a disease paradigm. Acute and severe presentations include aplastic anemia, myelodysplastic syndrome, or leukemia, requiring bone marrow transplantation during childhood. Conversely, non-hematological manifestations may exhibit a prolonged and nonspecific clinical trajectory, with growth failure and developmental delay, most of which ar...
Source: European Journal of Medical Genetics - April 13, 2024 Category: Genetics & Stem Cells Authors: Mio Matsumoto Momoko Oyake Tomoyo Itonaga Miwako Maeda Soichi Suenobu Daichi Sato Yoji Sasahara Hiroyuki Mishima Koh-Ichiro Yoshiura Kenji Ihara Source Type: research
Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood
Eur J Med Genet. 2024 Apr 15;69:104939. doi: 10.1016/j.ejmg.2024.104939. Online ahead of print.ABSTRACTADH5/ALDH2 deficiency is a rare inherited syndrome characterized by short stature, microcephaly, delayed mental development, and hematopoietic dysfunction and has recently been proposed as a disease paradigm. Acute and severe presentations include aplastic anemia, myelodysplastic syndrome, or leukemia, requiring bone marrow transplantation during childhood. Conversely, non-hematological manifestations may exhibit a prolonged and nonspecific clinical trajectory, with growth failure and developmental delay, most of which ar...
Source: European Journal of Medical Genetics - April 13, 2024 Category: Genetics & Stem Cells Authors: Mio Matsumoto Momoko Oyake Tomoyo Itonaga Miwako Maeda Soichi Suenobu Daichi Sato Yoji Sasahara Hiroyuki Mishima Koh-Ichiro Yoshiura Kenji Ihara Source Type: research
Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood
Eur J Med Genet. 2024 Apr 15;69:104939. doi: 10.1016/j.ejmg.2024.104939. Online ahead of print.ABSTRACTADH5/ALDH2 deficiency is a rare inherited syndrome characterized by short stature, microcephaly, delayed mental development, and hematopoietic dysfunction and has recently been proposed as a disease paradigm. Acute and severe presentations include aplastic anemia, myelodysplastic syndrome, or leukemia, requiring bone marrow transplantation during childhood. Conversely, non-hematological manifestations may exhibit a prolonged and nonspecific clinical trajectory, with growth failure and developmental delay, most of which ar...
Source: European Journal of Medical Genetics - April 13, 2024 Category: Genetics & Stem Cells Authors: Mio Matsumoto Momoko Oyake Tomoyo Itonaga Miwako Maeda Soichi Suenobu Daichi Sato Yoji Sasahara Hiroyuki Mishima Koh-Ichiro Yoshiura Kenji Ihara Source Type: research
Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood
Eur J Med Genet. 2024 Apr 15;69:104939. doi: 10.1016/j.ejmg.2024.104939. Online ahead of print.ABSTRACTADH5/ALDH2 deficiency is a rare inherited syndrome characterized by short stature, microcephaly, delayed mental development, and hematopoietic dysfunction and has recently been proposed as a disease paradigm. Acute and severe presentations include aplastic anemia, myelodysplastic syndrome, or leukemia, requiring bone marrow transplantation during childhood. Conversely, non-hematological manifestations may exhibit a prolonged and nonspecific clinical trajectory, with growth failure and developmental delay, most of which ar...
Source: European Journal of Medical Genetics - April 13, 2024 Category: Genetics & Stem Cells Authors: Mio Matsumoto Momoko Oyake Tomoyo Itonaga Miwako Maeda Soichi Suenobu Daichi Sato Yoji Sasahara Hiroyuki Mishima Koh-Ichiro Yoshiura Kenji Ihara Source Type: research
