X‐linked Dyggve‐Melchior‐Clausen syndrome

Yunis, Emilio; Fontalvos, Justo; Quintero, Luis

doi:10.1111/j.1399-0004.1980.tb00887.x

Cited by 14 publications

(7 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…However, an X-linked pedigree of DMC has also been described 5. The remarkable resemblance of patients with DMC to those with mucopolysaccharidosis led to the designation of the disease of the original family as Morquio–Ullrich syndrome 4.…”

Section: Introductionmentioning

confidence: 99%

Mutation inRAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve–Melchior–Clausen locus

2012

View full text Add to dashboard Cite

show abstract

Section: Introductionmentioning

confidence: 99%

Mutation inRAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve–Melchior–Clausen locus

2012

View full text Add to dashboard Cite

show abstract

“…Including our patients, odontoid hypoplasia has been described in 12 patients with DMC syndrome (12% of all patients with DMC). Six patients exhibited no neurological symptoms, including our patients [1,8,19]. One patient, a 17-year-old NC P1 P2 CARRIERS Fig.…”

Section: Discussionmentioning

confidence: 95%

Dyggve–Melchior–Clausen syndrome: novel splice mutation with atlanto-axial subluxation

et al. 2010

View full text Add to dashboard Cite

Dyggve-Melchior-Clausen (DMC) syndrome is a rare autosomal recessive disorder characterized by the association of a progressive spondyloepimetaphyseal dysplasia and mental retardation ranging from mild to severe. The disorder results from mutations in the dymeclin (DYM) gene in the 18q12-12.1 chromosomal region. We report two siblings with classical clinical and radiological features of DMC and asymptomatic atlanto-axial dislocation. A novel homozygous splice-site mutation (IVS15+3G>T) was detected. Reverse transcriptase polymerase chain reaction (RT-PCR) confirmed that this mutation affects normal splicing. To the best of our knowledge, this is the first report of DMC from Saudi Arabia. The splice mutation noted in our patients was compared to the previously reported cases and supports the hypothesis that loss of DYM function is the likely mechanism of disease pathogenesis. In conclusion, distinction between this type of skeletal dysplasia and Morquio disease (MPS IV) is important for paediatricians and clinical geneticist in providing standard patient care and genetic counselling.

show abstract

“…X linked inheritance had also been proposed in some families with DMC, but the genetic basis of this is unknown. Bieganski et al 22 described three affected male cousins born to three sisters and Yunis et al 23 described ten affected male individuals in three generations from a single Colombian family with clinical and radiological features suggestive of DMC. Although we have no clear explanation for presentation at a younger age in the six individuals with SMC2 in our series, we believe that a child with progressive skeletal abnormalities with normal intellect is more likely to present at a medical facility earlier as compared with one with intellectual disabilities and skeletal findings.…”

Section: Discussionmentioning

confidence: 99%

Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India

et al. 2022

View full text Add to dashboard Cite

BackgroundDyggve-Melchior-Clausen dysplasia (DMC) and Smith-McCort dysplasia (SMC types 1 and 2) are rare spondyloepimetaphyseal dysplasias with identical radiological findings. The presence of intellectual disability in DMC and normal intellect in SMC differentiates the two. DMC and SMC1 are allelic and caused by homozygous or compound heterozygous variants in DYM. SMC2 is caused by variations in RAB33B. Both DYM and RAB33B are important in intravesicular transport and function in the Golgi apparatus.MethodsDetailed clinical phenotyping and skeletal radiography followed by molecular testing were performed in all affected individuals. Next-generation sequencing and Sanger sequencing were used to confirm DYM and RAB33B variants. Sanger sequencing of familial variants was done in all parents.Results24 affected individuals from seven centres are described. 18 had DMC and 6 had SMC2. Parental consanguinity was present in 15 of 19 (79%). Height <3 SD and gait abnormalities were seen in 20 and 14 individuals, respectively. The characteristic radiological findings of lacy iliac crests and double-humped vertebral bodies were seen in 96% and 88% of the affected. Radiological findings became attenuated with age. 23 individuals harboured biallelic variants in either DYM or RAB33B. Fourteen different variants were identified, out of which 10 were novel. The most frequently occurring variants in this group were c.719 C>A (3), c.1488_1489del (2), c.1484dup (2) and c.1563+2T>C (2) in DYM and c.400C>T (2) and c.186del (2) in RAB33B. The majority of these have not been reported previously.ConclusionThis large cohort from India contributes to the increasing knowledge of clinical and molecular findings in these rare ‘Golgipathies’.

show abstract

X‐linked Dyggve‐Melchior‐Clausen syndrome

Cited by 14 publications

References 5 publications

Mutation inRAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve–Melchior–Clausen locus

Mutation inRAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve–Melchior–Clausen locus

Dyggve–Melchior–Clausen syndrome: novel splice mutation with atlanto-axial subluxation

Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India

Contact Info

Product

Resources

About