Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation

LEROY, Chrystel; SCHUSTER, Volker; HİRSCH, Franz Wolfgang; KİESS, Wieland; BERTSCHE, Astrid; SİLVE, Caroline; HOPPMANN, Julia; GESİNG, Julia; PFÄFFLE, Roland

Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation

Julia HOPPMANN, (University of Leipzig, Hospital for Children and Adolescents, Department of Women and Child Health, Leipzig, Germany)

Julia GESİNG, (University of Leipzig, Hospital for Children and Adolescents, Department of Women and Child Health, Leipzig, Germany)

Caroline SİLVE, (Université Paris-Sud Faculté de Médecine, INSERM U1169, Département de Génétique et de Biologie Moléculaire, Le Kremlin Bicêtre, France)

Chrystel LEROY, (Boş)

Astrid BERTSCHE, (University of Leipzig, Hospital for Children and Adolescents, Department of Women and Child Health, Leipzig, Germany)

Franz Wolfgang HİRSCH, (University of Leipzig, Hospital for Children and Adolescents, Department of Women and Child Health, Leipzig, Germany)

Wieland KİESS, (University of Leipzig, Hospital for Children and Adolescents, Department of Women and Child Health, Leipzig, Germany)

Roland PFÄFFLE, (University of Leipzig, Hospital for Children and Adolescents, Department of Women and Child Health, Leipzig, Germany)

Volker SCHUSTER (University of Leipzig, Hospital for Children and Adolescents, Department of Women and Child Health, Leipzig, Germany)

Journal of Clinical Research in Pediatric Endocrinology

5 0

Yıl: 2017 Cilt: 9 Sayı: 4 Sayfa Aralığı: 360 - 365 Metin Dili: İngilizce İndeks Tarihi: 29-07-2022

Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation

Öz:

Acrodysostosis is a very rare congenital multisystem condition characterized by skeletal dysplasia with severe brachydactyly, midfacial hypoplasia, and short stature, varying degrees of intellectual disability, and possible resistance to multiple G protein-coupled receptor signalling hormones. Two distinct subtypes are differentiated: acrodysostosis type 1 resulting from defects in protein kinase type 1-? regulatory subunit and acrodysostosis type 2 caused by mutations in phosphodiesterase 4D (PDE4D). Most cases are sporadic. We report on a rare multigenerational familial case of acrodysostosis type 2 due to a novel autosomal dominantly inherited PDE4D mutation. A 3.5-year-old boy presented with short stature, midfacial hypoplasia, severe brachydactyly, developmental delay, and behavioural problems. Laboratory investigations revealed mild thyrotropin resistance. His mother shared some characteristic features, such as midfacial hypoplasia and severe brachydactyly, but did not show short stature, intellectual disability or hormonal resistance. Genetic analysis identified the identical, novel heterozygous missense mutation of the PDE4D gene c.569C>T (p.Ser190Phe) in both patients. This case illustrates the significant phenotypic variability of acrodysostosis even within one family with identical mutations. Hence, a specific clinical diagnosis of acrodysostosis remains challenging because of great interindividual variability and a substantial overlap of the two subtypes as well as with other related Gs?-cAMP-signalling-linked disorders.

Anahtar Kelime:

Konular: Endokrinoloji ve Metabolizma Pediatri

Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık

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APA	HOPPMANN J, GESİNG J, SİLVE C, LEROY C, BERTSCHE A, HİRSCH F, KİESS W, PFÄFFLE R, SCHUSTER V (2017). Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation. , 360 - 365.
Chicago	HOPPMANN Julia,GESİNG Julia,SİLVE Caroline,LEROY Chrystel,BERTSCHE Astrid,HİRSCH Franz Wolfgang,KİESS Wieland,PFÄFFLE Roland,SCHUSTER Volker Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation. (2017): 360 - 365.
MLA	HOPPMANN Julia,GESİNG Julia,SİLVE Caroline,LEROY Chrystel,BERTSCHE Astrid,HİRSCH Franz Wolfgang,KİESS Wieland,PFÄFFLE Roland,SCHUSTER Volker Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation. , 2017, ss.360 - 365.
AMA	HOPPMANN J,GESİNG J,SİLVE C,LEROY C,BERTSCHE A,HİRSCH F,KİESS W,PFÄFFLE R,SCHUSTER V Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation. . 2017; 360 - 365.
Vancouver	HOPPMANN J,GESİNG J,SİLVE C,LEROY C,BERTSCHE A,HİRSCH F,KİESS W,PFÄFFLE R,SCHUSTER V Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation. . 2017; 360 - 365.
IEEE	HOPPMANN J,GESİNG J,SİLVE C,LEROY C,BERTSCHE A,HİRSCH F,KİESS W,PFÄFFLE R,SCHUSTER V "Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation." , ss.360 - 365, 2017.
ISNAD	HOPPMANN, Julia vd. "Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation". (2017), 360-365.

APA	HOPPMANN J, GESİNG J, SİLVE C, LEROY C, BERTSCHE A, HİRSCH F, KİESS W, PFÄFFLE R, SCHUSTER V (2017). Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation. Journal of Clinical Research in Pediatric Endocrinology, 9(4), 360 - 365.
Chicago	HOPPMANN Julia,GESİNG Julia,SİLVE Caroline,LEROY Chrystel,BERTSCHE Astrid,HİRSCH Franz Wolfgang,KİESS Wieland,PFÄFFLE Roland,SCHUSTER Volker Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation. Journal of Clinical Research in Pediatric Endocrinology 9, no.4 (2017): 360 - 365.
MLA	HOPPMANN Julia,GESİNG Julia,SİLVE Caroline,LEROY Chrystel,BERTSCHE Astrid,HİRSCH Franz Wolfgang,KİESS Wieland,PFÄFFLE Roland,SCHUSTER Volker Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation. Journal of Clinical Research in Pediatric Endocrinology, vol.9, no.4, 2017, ss.360 - 365.
AMA	HOPPMANN J,GESİNG J,SİLVE C,LEROY C,BERTSCHE A,HİRSCH F,KİESS W,PFÄFFLE R,SCHUSTER V Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation. Journal of Clinical Research in Pediatric Endocrinology. 2017; 9(4): 360 - 365.
Vancouver	HOPPMANN J,GESİNG J,SİLVE C,LEROY C,BERTSCHE A,HİRSCH F,KİESS W,PFÄFFLE R,SCHUSTER V Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation. Journal of Clinical Research in Pediatric Endocrinology. 2017; 9(4): 360 - 365.
IEEE	HOPPMANN J,GESİNG J,SİLVE C,LEROY C,BERTSCHE A,HİRSCH F,KİESS W,PFÄFFLE R,SCHUSTER V "Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation." Journal of Clinical Research in Pediatric Endocrinology, 9, ss.360 - 365, 2017.
ISNAD	HOPPMANN, Julia vd. "Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation". Journal of Clinical Research in Pediatric Endocrinology 9/4 (2017), 360-365.