Brunoni Syndrome

Last update 01 Nov 2024

Basic Info

Synonyms

Brunoni syndrome, Mesomelia, radial hypoplasia bifid thumb unusual facies, Mesomelic dwarfism, skeletal abnormalities, and ectodermal dysplasia

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Introduction-

100 Clinical Results associated with Brunoni Syndrome

100 Translational Medicine associated with Brunoni Syndrome

0 Patents (Medical) associated with Brunoni Syndrome

Literatures (Medical) associated with Brunoni Syndrome

01 Sep 2010·The American Journal of Human GeneticsQ1 · BIOLOGY

Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

Q1 · BIOLOGY

Article

Author: Han G. Brunner ; Ronald Roepman ; Alexander Hoischen ; Sarina G. Kant ; Peer Arts ; Heleen H. Arts ; Jeroen van Reeuwijk ; Bart van Lier ; Nine V.A.M. Knoers ; Liesbeth Spruijt ; Christian Gilissen ; Marloes Steehouwer ; Joris A. Veltman ; Dorus A. Mans

Sensenbrenner syndrome/cranioectodermal dysplasia (CED) is an autosomal-recessive disease that is characterized by craniosynostosis and ectodermal and skeletal abnormalities. We sequenced the exomes of two unrelated CED patients and identified compound heterozygous mutations in WDR35 as the cause of the disease in each of the two patients independently, showing that it is possible to find the causative gene by sequencing the exome of a single sporadic patient. With RT-PCR, we demonstrate that a splice-site mutation in exon 2 of WDR35 alters splicing of RNA on the affected allele, introducing a premature stop codon. WDR35 is homologous to TULP4 (from the Tubby superfamily) and has previously been characterized as an intraflagellar transport component, confirming that Sensenbrenner syndrome is a ciliary disorder.

01 Jan 2008·Acta Dermato Venereologica

Congenital Hyponychia without RSPO4 Mutation

Letter

Author: Miyachi, Y ; Yoshiki Miyachi ; Nakamura, M

Sir, Congenital anonychia or its milder phenotypic variant hyponychia is a disorder with total or partial absence of fingerand toe-nails (1). Some congenital anonychia or hyponychia is associated with skeletal, limb and ectodermal developmental abnormalities, such as nailpatella syndrome, Coffin-Siris syndrome and ectodermal dysplasias. However, other patients show only anonychia or hyponychia without any associated disorder. Recently, homozygous and compound heterozygous mutations in the secreted Wnt signalling component R-spondin 4 (RSPO4) gene have been identified as responsible for autosomal recessive congenital anonychia or hyponychia (1–3). We report here a case of congenital hyponychia in a patient whose mother showed a similar hyponychia. However, the patient had no mutation in RSPO4.

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Brunoni Syndrome

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