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A novel frameshift mutation and infrequent clinical findings in two cases with Dyggve-Melchior-Clausen syndrome.
MedLine Citation:
PMID:  24300288     Owner:  NLM     Status:  In-Data-Review    
Dyggve-Melchior-Clausen syndrome (DMC) (MIM #223800) is a rare autosomal-recessive type of skeletal dysplasia accompanied by variable degrees of intellectual disability (ID). It is characterized by progressive spondyloepimetaphyseal dysplasia leading to disproportionate short stature, microcephaly, and coarse facies. The radiographic appearance of generalized platyspondyly with double-humped end plates and the lace-like appearance of iliac crests are pathognomonic in this syndrome. The disorder results from mutations in the dymeclin (DYM) mapped to the 18q12-12.1 chromosomal region. Here, we report two cases with DMC: one with disproportionate short stature, developmental delay, and severe ID with a novel frameshift mutation (c.1028_1056del29) leading to a premature stop codon, and the second patient with classical clinical and radiological features of DMC with mild ID and rectal prolapse, which is very rare. The clinical diagnosis was confirmed with molecular analysis of DYM with a known mutation at c.580C>T (p.R194X). The parents and sibling of the second patient were heterozygous carriers with mild skeletal changes and short stature.
Mehmet Seven; Erkan Koparir; Alper Gezdirici; Hatip Aydin; Heyko Skladny; Elif Fenercioğlu; Gülgün Güven; Omer Faruk Karataş; Asuman Koparir; Mustafa Ozen; Hakan Ulucan
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  23     ISSN:  1473-5717     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  2014 Jan 
Date Detail:
Created Date:  2013-12-04     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  England    
Other Details:
Languages:  eng     Pagination:  1-7     Citation Subset:  IM    
aDepartment of Medical Genetics, Cerrahpasa Medical School, Istanbul University bDepartment of Medical Genetics, Zeynep Kamil Women and Children Diseases Education and Research Hospital, Istanbul, Turkey cCentre for Human Genetics (Zentrum für Humangenetik, ZHMA), Mannheim, Germany.
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