Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families (Englisch)

In: Molecular Syndromology   ;  5 ,  6  ;  268-275  ;  2014

Wie erhalte ich diesen Titel?

Kommerziell Vergütung an den Verlag: 24,00 € Grundgebühr: 4,00 € Gesamtpreis: 28,00 €
Akademisch Vergütung an den Verlag: 10,00 € Grundgebühr: 2,00 € Gesamtpreis: 12,00 €


Autosomal recessiveosteogenesis imperfecta (OI) accounts for 10% of all OI cases, and, currently, mutations in 10 genes (CRTAP, LEPRE1, PPIB, SERPINH1, FKBP10, SERPINF1, SP7, BMP1, TMEM38B, andWNT1) are known to be responsible for this form of the disease. PEDF is a secreted glycoprotein of the serpin superfamily that maintains bone homeostasis and regulates osteoid mineralization, and it is encoded by SERPINF1, currently associated with OI type VI (MIM 172860). Here, we report a consanguineous Brazilian family in which multiple individuals from at least 4 generations are affected with a severe form of OI, and we also report an unrelated individual from the same small city in Brazil with a similar but more severe phenotype. In both families the same homozygous SERPINF1 19-bp deletion was identified which is not known in the literature yet. We described intra- and interfamilial clinical and radiological phenotypic variability of OI type VI caused by the same homozygous SERPINF1 19-bp deletion and suggest a founder effect. Furthermore, the SERPINF1 genotypes/phenotypes reported so far in the literature are reviewed.

© 2014 S. Karger AG, Basel

Inhaltsverzeichnis – Band 5, Ausgabe 6

Zeige alle Jahrgänge und Ausgaben

Die Inhaltsverzeichnisse werden automatisch erzeugt und basieren auf den im Index des TIB-Portals verfügbaren Nachweisen der enthaltenen Aufsätze. Die Anzeige der Jahrgänge kann aufgrund fehlender Aufsatznachweise unvollständig oder lückenhaft sein, obwohl die Zeitschrift komplett in der TIB verfügbar ist.

All Humans, Great or Small, Short or Tall
Poot, Martin | 2014
Common Somatic Alterations Identified in Maffucci Syndrome by Molecular Karyotyping
Amyere, Mustapha / Dompmartin, Anne / Wouters, Vinciane / Enjolras, Odile / Kaitila, Ilkka / Docquier, Pierre-Louis / Godfraind, Catherine / Mulliken, John Butler / Boon, Laurence Myriam / Vikkula, Miikka | 2014
Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families
Moldenhauer Minillo, Renata / Sobreira, Nara / de Fatima de Faria Soares, Maria / Jurgens, Julie / Ling, Hua / Hetrick, Kurt N. / Doheny, Kimberly F. / Valle, David / Brunoni, Decio / Alvarez Perez, Ana B. | 2014
A Mouse Splice-Site Mutant and Individuals with Atypical Chromosome 22q11.2 Deletions Demonstrate the Crucial Role for Crkl in Craniofacial and Pharyngeal Development
Miller, Kerry A. / Tan, Tiong Y. / Welfare, Megan F. / White, Susan M. / Stark, Zornitza / Savarirayan, Ravi / Burgess, Trent / Heggie, Andrew A. / Caruana, Georgina / Bertram, John F. et al. | 2014
Challenges in Clinical Diagnosis of Williams-Beuren Syndrome in Sub-Saharan Africans: Case Reports from Cameroon
Tekendo-Ngongang, Cedrik / Dahoun, Sophie / Nguefack, Seraphin / Gimelli, Stefania / Sloan-Béna, Frédérique / Wonkam, Ambroise | 2014
A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome
Huckert, Mathilde / Mecili, Helen / Laugel-Haushalter, Virginie / Stoetzel, Corinne / Muller, Jean / Flori, Elisabeth / Laugel, Vincent / Manière, Marie-Cécile / Dollfus, Hélène / Bloch-Zupan, Agnès | 2014
Dihydropyrimidine Dehydrogenase Deficiency in Two Malaysian Siblings with Abnormal MRI Findings
Chen, Bee Chin / Mohd Rawi, Rowani / Meinsma, Rutger / Meijer, Judith / Hennekam, Raoul C.M. / van Kuilenburg, André B.P. | 2014
A Plakophilin-1 Gene Mutation in an Egyptian Family with Ectodermal Dysplasia-Skin Fragility Syndrome
Abdalla, Ebtesam M. / Has, Cristina | 2014
Contents Vol. 5, 2014
| 2014
Front & Back Matter
| 2014