Citation
Lohan, S, et al. "Microduplications Encompassing the Sonic Hedgehog Limb Enhancer ZRS Are Associated With Haas-type Polysyndactyly and Laurin-Sandrow Syndrome." Clinical Genetics, vol. 86, no. 4, 2014, pp. 318-25.
Lohan S, Spielmann M, Doelken SC, et al. Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome. Clin Genet. 2014;86(4):318-25.
Lohan, S., Spielmann, M., Doelken, S. C., Flöttmann, R., Muhammad, F., Baig, S. M., Wajid, M., Hülsemann, W., Habenicht, R., Kjaer, K. W., Patil, S. J., Girisha, K. M., Abarca-Barriga, H. H., Mundlos, S., & Klopocki, E. (2014). Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome. Clinical Genetics, 86(4), 318-25. https://doi.org/10.1111/cge.12352
Lohan S, et al. Microduplications Encompassing the Sonic Hedgehog Limb Enhancer ZRS Are Associated With Haas-type Polysyndactyly and Laurin-Sandrow Syndrome. Clin Genet. 2014;86(4):318-25. PubMed PMID: 24456159.
TY - JOUR
T1 - Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome.
AU - Lohan,S,
AU - Spielmann,M,
AU - Doelken,S C,
AU - Flöttmann,R,
AU - Muhammad,F,
AU - Baig,S M,
AU - Wajid,M,
AU - Hülsemann,W,
AU - Habenicht,R,
AU - Kjaer,K W,
AU - Patil,S J,
AU - Girisha,K M,
AU - Abarca-Barriga,H H,
AU - Mundlos,S,
AU - Klopocki,E,
Y1 - 2014/02/17/
PY - 2013/12/16/received
PY - 2014/01/16/revised
PY - 2014/01/20/accepted
PY - 2014/1/25/entrez
PY - 2014/1/25/pubmed
PY - 2015/5/26/medline
KW - CNVs
KW - Laurin-Sandrow syndrome
KW - SHH
KW - ZRS-associated syndromes
KW - microduplication
SP - 318
EP - 25
JF - Clinical genetics
JO - Clin Genet
VL - 86
IS - 4
N2 - Laurin-Sandrow syndrome (LSS) is a rare autosomal dominant disorder characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia. The genetic basis of LSS is currently unknown. LSS shows phenotypic overlap with Haas-type polysyndactyly (HTS) regarding the digital phenotype. Here we report on five unrelated families with overlapping microduplications encompassing the Sonic hedgehog (SHH) limb enhancer ZPA regulatory sequence (ZRS) on chromosome 7q36. Clinically, the patients show polysyndactyly phenotypes and various types of lower limb malformations ranging from syndactyly to mirror image polydactyly with duplications of the fibulae. We show that larger duplications of the ZRS region (>80 kb) are associated with HTS, whereas smaller duplications (<80 kb) result in the LSS phenotype. On the basis of our data, the latter can be clearly distinguished from HTS by the presence of mirror image polysyndactyly of the feet with duplication of the fibula. Our results expand the clinical phenotype of the ZRS-associated syndromes and suggest that smaller duplications (<80 kb) are associated with a more severe phenotype. In addition, we show that these small microduplications within the ZRS region are the underlying genetic cause of Laurin-Sandrow syndrome.
SN - 1399-0004
UR - https://www.unboundmedicine.com/medline/citation/24456159/Microduplications_encompassing_the_Sonic_hedgehog_limb_enhancer_ZRS_are_associated_with_Haas_type_polysyndactyly_and_Laurin_Sandrow_syndrome_
L2 - https://doi.org/10.1111/cge.12352
DB - PRIME
DP - Unbound Medicine
ER -
