PMID- 10466420
OWN - NLM
STAT- MEDLINE
DCOM- 19990930
LR  - 20190816
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 56
IP  - 1
DP  - 1999 Jul
TI  - Homozygosity for a novel DTDST mutation in a child with a 'broad
      bone-platyspondylic' variant of diastrophic dysplasia.
PG  - 71-6
AB  - Atypical or variant forms of well-known chondrodysplasias may pose diagnostic
      problems. We report on a girl with clinical features suggesting diastrophic
      dysplasia but with unusual radiographic features including severe platyspondyly, 
      wide metaphyses, and fibular overgrowth, which are partially reminiscent of
      metatropic dysplasia. The diagnosis was clarified by molecular analysis of the
      DTDST gene, which revealed homozygosity for a previously undescribed mutation
      leading to a Q454P substitution in the 10th transmembrane domain of the DTDST
      sulfate transporter. Molecular analysis may be of particular value in such
      atypical cases.
FAU - Megarbane, A
AU  - Megarbane A
AD  - Unite de Genetique Medicale, Laboratoire de Biologie Moleculaire et
      Cytogenetique, Faculte de Medecine, Universite Saint-Joseph, Beirut, Lebanon.
      megarban@dm.net.lb
FAU - Haddad, F A
AU  - Haddad FA
FAU - Haddad-Zebouni, S
AU  - Haddad-Zebouni S
FAU - Achram, M
AU  - Achram M
FAU - Eich, G
AU  - Eich G
FAU - Le Merrer, M
AU  - Le Merrer M
FAU - Superti-Furga, A
AU  - Superti-Furga A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
RN  - 0 (Anion Transport Proteins)
RN  - 0 (Carrier Proteins)
RN  - 0 (Membrane Transport Proteins)
RN  - 0 (SLC26A2 protein, human)
RN  - 0 (Sulfate Transporters)
RN  - 0 (Sulfates)
SB  - IM
MH  - Anion Transport Proteins
MH  - Biological Transport
MH  - Carrier Proteins/*genetics
MH  - Female
MH  - *Homozygote
MH  - Humans
MH  - Infant
MH  - Membrane Transport Proteins
MH  - Osteochondrodysplasias/classification/diagnostic imaging/*genetics
MH  - Radiography
MH  - Sulfate Transporters
MH  - Sulfates/metabolism
EDAT- 1999/08/31 00:00
MHDA- 1999/08/31 00:01
CRDT- 1999/08/31 00:00
PHST- 1999/08/31 00:00 [pubmed]
PHST- 1999/08/31 00:01 [medline]
PHST- 1999/08/31 00:00 [entrez]
AID - 10.1034/j.1399-0004.1999.560110.x [doi]
PST - ppublish
SO  - Clin Genet. 1999 Jul;56(1):71-6. doi: 10.1034/j.1399-0004.1999.560110.x.