Document Detail


Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients.
MedLine Citation:
PMID:  17159511     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Several disorders characterized primarily by anomalies of the skeleton have recently been shown to be caused by mutations in the X-linked gene, FLNA. One of these conditions, the Melnick-Needles syndrome exhibits a phenotype that shares overlap with that of serpentine fibula-polycystic kidney syndrome and the autosomal dominant condition, Hajdu-Cheney syndrome. Here, we describe three individuals with these diagnoses. The individual with serpentine fibula-polycystic kidney syndrome, the fifth case reported in the literature, exhibited wormian bones which further expands the phenotypic spectrum for this condition and extends the overlap with Hajdu-Cheney syndrome. All three members of the filamin gene family, FLNA, and its functionally related paralogues, FLNB and FLNC, were screened for pathogenic mutations in all three individuals. We found a mutation in FLNA in the individual with Melnick-Needles syndrome, but no pathogenic variants in any filamin gene in the two individuals with Hajdu-Cheney syndrome and serpentine fibula-polycystic kidney syndrome. Clinical and molecular evidence indicates that Melnick-Needles syndrome is aetiologically distinct from Hajdu-Cheney syndrome and serpentine fibula-polycystic kidney syndrome, but these two latter conditions share many clinical similarities and may prove to be allelic to one another.
Authors:
Lilian M J Albano; Débora R Bertola; Mário F Barba; Marcelo Valente; Stephen P Robertson; Chong A Kim
Publication Detail:
Type:  Case Reports; Comparative Study; Journal Article    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  16     ISSN:  0962-8827     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  2007 Jan 
Date Detail:
Created Date:  2006-12-12     Completed Date:  2007-01-25     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  England    
Other Details:
Languages:  eng     Pagination:  27-33     Citation Subset:  IM    
Affiliation:
Genetics Unit, Instituto da Cariança of University, São Paulo, Brazil.
Data Bank Information
Bank Name/Acc. No.:
OMIM/102500;  309350;  600330
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Alleles*
Child
Contractile Proteins / genetics*
DNA Mutational Analysis / methods
Female
Hajdu-Cheney Syndrome / genetics*,  pathology
Humans
Male
Microfilament Proteins / genetics*
Osteochondrodysplasias / genetics*,  pathology
Phenotype
Polycystic Kidney Diseases / genetics*,  pathology
Chemical
Reg. No./Substance:
0/Contractile Proteins; 0/Microfilament Proteins; 0/filamins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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