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Novel TRPS1 frameshift variant in tricho-rhino-phalangeal syndrome type I accompanied by zinc deficiency
Eur J Med Genet. 2023 Oct 23;66(12):104870. doi: 10.1016/j.ejmg.2023.104870. Online ahead of print.ABSTRACTTricho-rhino-phalangeal syndrome type I (TRPS1), caused by pathogenic variants in the transcriptional repressor GATA-binding 1 gene (TRPS1), is characterized by ectodermal and skeletal anomalies including short stature and sparse scalp hair during infancy. TRPS1 encodes a zinc finger protein transcription factor that contributes to bone homeostasis by regulating perichondral mineralization, chondrocyte proliferation, and apoptosis. Here, a male infant aged 14 months presented with sparse scalp hair, deformed nails, fu...
Source: European Journal of Medical Genetics - October 25, 2023 Category: Genetics & Stem Cells Authors: Hideaki Yagasaki Hiromune Narusawa Daisuke Watanabe Koji Kobayashi Hiroshi Mitsui Yoshihiro Asano Miho Nagata Ayumi Yonei Takeshi Inukai Source Type: research

Novel TRPS1 frameshift variant in tricho-rhino-phalangeal syndrome type I accompanied by zinc deficiency
Eur J Med Genet. 2023 Oct 23;66(12):104870. doi: 10.1016/j.ejmg.2023.104870. Online ahead of print.ABSTRACTTricho-rhino-phalangeal syndrome type I (TRPS1), caused by pathogenic variants in the transcriptional repressor GATA-binding 1 gene (TRPS1), is characterized by ectodermal and skeletal anomalies including short stature and sparse scalp hair during infancy. TRPS1 encodes a zinc finger protein transcription factor that contributes to bone homeostasis by regulating perichondral mineralization, chondrocyte proliferation, and apoptosis. Here, a male infant aged 14 months presented with sparse scalp hair, deformed nails, fu...
Source: European Journal of Medical Genetics - October 25, 2023 Category: Genetics & Stem Cells Authors: Hideaki Yagasaki Hiromune Narusawa Daisuke Watanabe Koji Kobayashi Hiroshi Mitsui Yoshihiro Asano Miho Nagata Ayumi Yonei Takeshi Inukai Source Type: research

Novel TRPS1 frameshift variant in tricho-rhino-phalangeal syndrome type I accompanied by zinc deficiency
Eur J Med Genet. 2023 Oct 23;66(12):104870. doi: 10.1016/j.ejmg.2023.104870. Online ahead of print.ABSTRACTTricho-rhino-phalangeal syndrome type I (TRPS1), caused by pathogenic variants in the transcriptional repressor GATA-binding 1 gene (TRPS1), is characterized by ectodermal and skeletal anomalies including short stature and sparse scalp hair during infancy. TRPS1 encodes a zinc finger protein transcription factor that contributes to bone homeostasis by regulating perichondral mineralization, chondrocyte proliferation, and apoptosis. Here, a male infant aged 14 months presented with sparse scalp hair, deformed nails, fu...
Source: European Journal of Medical Genetics - October 25, 2023 Category: Genetics & Stem Cells Authors: Hideaki Yagasaki Hiromune Narusawa Daisuke Watanabe Koji Kobayashi Hiroshi Mitsui Yoshihiro Asano Miho Nagata Ayumi Yonei Takeshi Inukai Source Type: research

Novel TRPS1 frameshift variant in tricho-rhino-phalangeal syndrome type I accompanied by zinc deficiency
Eur J Med Genet. 2023 Oct 23:104870. doi: 10.1016/j.ejmg.2023.104870. Online ahead of print.ABSTRACTTricho-rhino-phalangeal syndrome type I (TRPS1), caused by pathogenic variants in the transcriptional repressor GATA-binding 1 gene (TRPS1), is characterized by ectodermal and skeletal anomalies including short stature and sparse scalp hair during infancy. TRPS1 encodes a zinc finger protein transcription factor that contributes to bone homeostasis by regulating perichondral mineralization, chondrocyte proliferation, and apoptosis. Here, a male infant aged 14 months presented with sparse scalp hair, deformed nails, fused tee...
Source: European Journal of Medical Genetics - October 25, 2023 Category: Genetics & Stem Cells Authors: Hideaki Yagasaki Hiromune Narusawa Daisuke Watanabe Koji Kobayashi Hiroshi Mitsui Yoshihiro Asano Miho Nagata Ayumi Yonei Takeshi Inukai Source Type: research

Novel TRPS1 frameshift variant in tricho-rhino-phalangeal syndrome type I accompanied by zinc deficiency
Eur J Med Genet. 2023 Oct 23:104870. doi: 10.1016/j.ejmg.2023.104870. Online ahead of print.ABSTRACTTricho-rhino-phalangeal syndrome type I (TRPS1), caused by pathogenic variants in the transcriptional repressor GATA-binding 1 gene (TRPS1), is characterized by ectodermal and skeletal anomalies including short stature and sparse scalp hair during infancy. TRPS1 encodes a zinc finger protein transcription factor that contributes to bone homeostasis by regulating perichondral mineralization, chondrocyte proliferation, and apoptosis. Here, a male infant aged 14 months presented with sparse scalp hair, deformed nails, fused tee...
Source: European Journal of Medical Genetics - October 25, 2023 Category: Genetics & Stem Cells Authors: Hideaki Yagasaki Hiromune Narusawa Daisuke Watanabe Koji Kobayashi Hiroshi Mitsui Yoshihiro Asano Miho Nagata Ayumi Yonei Takeshi Inukai Source Type: research

Novel TRPS1 frameshift variant in tricho-rhino-phalangeal syndrome type I accompanied by zinc deficiency
Eur J Med Genet. 2023 Oct 23:104870. doi: 10.1016/j.ejmg.2023.104870. Online ahead of print.ABSTRACTTricho-rhino-phalangeal syndrome type I (TRPS1), caused by pathogenic variants in the transcriptional repressor GATA-binding 1 gene (TRPS1), is characterized by ectodermal and skeletal anomalies including short stature and sparse scalp hair during infancy. TRPS1 encodes a zinc finger protein transcription factor that contributes to bone homeostasis by regulating perichondral mineralization, chondrocyte proliferation, and apoptosis. Here, a male infant aged 14 months presented with sparse scalp hair, deformed nails, fused tee...
Source: European Journal of Medical Genetics - October 25, 2023 Category: Genetics & Stem Cells Authors: Hideaki Yagasaki Hiromune Narusawa Daisuke Watanabe Koji Kobayashi Hiroshi Mitsui Yoshihiro Asano Miho Nagata Ayumi Yonei Takeshi Inukai Source Type: research

Novel TRPS1 frameshift variant in tricho-rhino-phalangeal syndrome type I accompanied by zinc deficiency
Eur J Med Genet. 2023 Oct 23:104870. doi: 10.1016/j.ejmg.2023.104870. Online ahead of print.ABSTRACTTricho-rhino-phalangeal syndrome type I (TRPS1), caused by pathogenic variants in the transcriptional repressor GATA-binding 1 gene (TRPS1), is characterized by ectodermal and skeletal anomalies including short stature and sparse scalp hair during infancy. TRPS1 encodes a zinc finger protein transcription factor that contributes to bone homeostasis by regulating perichondral mineralization, chondrocyte proliferation, and apoptosis. Here, a male infant aged 14 months presented with sparse scalp hair, deformed nails, fused tee...
Source: European Journal of Medical Genetics - October 25, 2023 Category: Genetics & Stem Cells Authors: Hideaki Yagasaki Hiromune Narusawa Daisuke Watanabe Koji Kobayashi Hiroshi Mitsui Yoshihiro Asano Miho Nagata Ayumi Yonei Takeshi Inukai Source Type: research

Novel TRPS1 frameshift variant in tricho-rhino-phalangeal syndrome type I accompanied by zinc deficiency
Eur J Med Genet. 2023 Oct 23:104870. doi: 10.1016/j.ejmg.2023.104870. Online ahead of print.ABSTRACTTricho-rhino-phalangeal syndrome type I (TRPS1), caused by pathogenic variants in the transcriptional repressor GATA-binding 1 gene (TRPS1), is characterized by ectodermal and skeletal anomalies including short stature and sparse scalp hair during infancy. TRPS1 encodes a zinc finger protein transcription factor that contributes to bone homeostasis by regulating perichondral mineralization, chondrocyte proliferation, and apoptosis. Here, a male infant aged 14 months presented with sparse scalp hair, deformed nails, fused tee...
Source: European Journal of Medical Genetics - October 25, 2023 Category: Genetics & Stem Cells Authors: Hideaki Yagasaki Hiromune Narusawa Daisuke Watanabe Koji Kobayashi Hiroshi Mitsui Yoshihiro Asano Miho Nagata Ayumi Yonei Takeshi Inukai Source Type: research

Novel TRPS1 frameshift variant in tricho-rhino-phalangeal syndrome type I accompanied by zinc deficiency
Eur J Med Genet. 2023 Oct 23:104870. doi: 10.1016/j.ejmg.2023.104870. Online ahead of print.ABSTRACTTricho-rhino-phalangeal syndrome type I (TRPS1), caused by pathogenic variants in the transcriptional repressor GATA-binding 1 gene (TRPS1), is characterized by ectodermal and skeletal anomalies including short stature and sparse scalp hair during infancy. TRPS1 encodes a zinc finger protein transcription factor that contributes to bone homeostasis by regulating perichondral mineralization, chondrocyte proliferation, and apoptosis. Here, a male infant aged 14 months presented with sparse scalp hair, deformed nails, fused tee...
Source: European Journal of Medical Genetics - October 25, 2023 Category: Genetics & Stem Cells Authors: Hideaki Yagasaki Hiromune Narusawa Daisuke Watanabe Koji Kobayashi Hiroshi Mitsui Yoshihiro Asano Miho Nagata Ayumi Yonei Takeshi Inukai Source Type: research

Novel TRPS1 frameshift variant in tricho-rhino-phalangeal syndrome type I accompanied by zinc deficiency
Eur J Med Genet. 2023 Oct 23:104870. doi: 10.1016/j.ejmg.2023.104870. Online ahead of print.ABSTRACTTricho-rhino-phalangeal syndrome type I (TRPS1), caused by pathogenic variants in the transcriptional repressor GATA-binding 1 gene (TRPS1), is characterized by ectodermal and skeletal anomalies including short stature and sparse scalp hair during infancy. TRPS1 encodes a zinc finger protein transcription factor that contributes to bone homeostasis by regulating perichondral mineralization, chondrocyte proliferation, and apoptosis. Here, a male infant aged 14 months presented with sparse scalp hair, deformed nails, fused tee...
Source: European Journal of Medical Genetics - October 25, 2023 Category: Genetics & Stem Cells Authors: Hideaki Yagasaki Hiromune Narusawa Daisuke Watanabe Koji Kobayashi Hiroshi Mitsui Yoshihiro Asano Miho Nagata Ayumi Yonei Takeshi Inukai Source Type: research

Serum alkaline phosphatase can be elevated in patients with hypophosphatasia due to liver disease
CONCLUSIONS: We demonstrated the history of a 71-year old patient with HPP, presenting during routine follow-up with an elevated serum ALP level up to 204 U/L due to alcohol-induced hepatitis. This case illustrates that the diagnosis of HPP can potentially be missed when ALP levels are normal or elevated due to a concomitant liver disease.PMID:37839783 | DOI:10.1016/j.ejmg.2023.104866 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - October 15, 2023 Category: Genetics & Stem Cells Authors: Evert F S van Velsen Zografia Zervou M Carola Zillikens Source Type: research

Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant
We report on four patients (three adults and one adolescent) with a severe deforming form of OI. All patients presented no abnormalities at birth, frequent long bone and vertebrae fractures (mainly during childhood), marked short stature, severe bone deformities, chronic mild to moderate pain, and severe limitation of mobility, with three being completely wheelchair bound. Blue sclera and dentinogenesis imperfecta were absent, although some patients presented tooth, ophthalmological, and/or cardiac features. Radiographic findings included, among others, thin diaphysis and popcorn calcifications, both of which are non-speci...
Source: European Journal of Medical Genetics - October 15, 2023 Category: Genetics & Stem Cells Authors: Andr é M Travessa Patr ícia Dias Joana Rosmaninho-Salgado Miriam Aza-Carmona Oana Moldovan Francisca D íaz-González F átima Godinho Jos é Carlos Romeu Filipa Oliveira-Ramos Maria do C éu Barreiros S érgio B Sousa Karen E Heath Ana Berta Sousa Source Type: research

Serum alkaline phosphatase can be elevated in patients with hypophosphatasia due to liver disease
CONCLUSIONS: We demonstrated the history of a 71-year old patient with HPP, presenting during routine follow-up with an elevated serum ALP level up to 204 U/L due to alcohol-induced hepatitis. This case illustrates that the diagnosis of HPP can potentially be missed when ALP levels are normal or elevated due to a concomitant liver disease.PMID:37839783 | DOI:10.1016/j.ejmg.2023.104866 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - October 15, 2023 Category: Genetics & Stem Cells Authors: Evert F S van Velsen Zografia Zervou M Carola Zillikens Source Type: research

Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant
We report on four patients (three adults and one adolescent) with a severe deforming form of OI. All patients presented no abnormalities at birth, frequent long bone and vertebrae fractures (mainly during childhood), marked short stature, severe bone deformities, chronic mild to moderate pain, and severe limitation of mobility, with three being completely wheelchair bound. Blue sclera and dentinogenesis imperfecta were absent, although some patients presented tooth, ophthalmological, and/or cardiac features. Radiographic findings included, among others, thin diaphysis and popcorn calcifications, both of which are non-speci...
Source: European Journal of Medical Genetics - October 15, 2023 Category: Genetics & Stem Cells Authors: Andr é M Travessa Patr ícia Dias Joana Rosmaninho-Salgado Miriam Aza-Carmona Oana Moldovan Francisca D íaz-González F átima Godinho Jos é Carlos Romeu Filipa Oliveira-Ramos Maria do C éu Barreiros S érgio B Sousa Karen E Heath Ana Berta Sousa Source Type: research

Serum alkaline phosphatase can be elevated in patients with hypophosphatasia due to liver disease
CONCLUSIONS: We demonstrated the history of a 71-year old patient with HPP, presenting during routine follow-up with an elevated serum ALP level up to 204 U/L due to alcohol-induced hepatitis. This case illustrates that the diagnosis of HPP can potentially be missed when ALP levels are normal or elevated due to a concomitant liver disease.PMID:37839783 | DOI:10.1016/j.ejmg.2023.104866 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - October 15, 2023 Category: Genetics & Stem Cells Authors: Evert F S van Velsen Zografia Zervou M Carola Zillikens Source Type: research