NA05788
DNA from Fibroblast
Description:
SMITH-LEMLI-OPITZ SYNDROME; SLOS
7-@DEHYDROCHOLESTEROL REDUCTASE; DHCR7
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Gene |
DHCR7 |
| Chromosomal Location |
11q12-q13 |
| Allelic Variant 1 |
G138V; SMITH-LEMLI-OPITZ SYNDROME |
| Identified Mutation |
GLY138VAL |
| |
| Gene |
DHCR7 |
| Chromosomal Location |
11q12-q13 |
| Allelic Variant 2 |
H405Y; SMITH-LEMLI-OPITZ SYNDROME |
| Identified Mutation |
HIS405TYR |
| Remarks |
46,XX in leukocytes; failure to thrive, developmental delay, hypotonia, microcephaly, micrognathia, simian creases, and partial syndactyly; negative family history; see GM05789 Lymphoid; donor subject is a compound heterozygote: one allele has a G>T transversion at nucleotide 413 of the DHCR7 gene (c.413G>T) resulting in the substitution of valine for glycine at codon 138 [Gly138Val (G138V)] and the second allele has a C>T transition at nucleotide 1213 (c.1213C>T) resulting in the substitution of tyrosine for histidine at codon 405 [His405Tyr (H405Y)] |
| Miyamoto T, Hosoba K, Itabashi T, Iwane AH, Akutsu SN, Ochiai H, Saito Y, Yamamoto T, Matsuura S, Insufficiency of ciliary cholesterol in hereditary Zellweger syndrome The EMBO journal:e103499 2019 |
| PubMed ID: 32368833 |
| |
| Maerz LD, Burkhalter MD, Schilpp C, Wittekindt OH, Frick M, Philipp M, Pharmacological cholesterol depletion disturbs ciliogenesis and ciliary function in developing zebrafish Communications biology2:31 2018 |
| PubMed ID: 30729178 |
| |
| Korade Z, Xu L, Harrison FE, Ahsen R, Hart SE, Folkes OM, Mirnics K, Porter NA, Antioxidant Supplementation Ameliorates Molecular Deficits in Smith-Lemli-Opitz Syndrome Biol Psychiatry2:31 2013 |
| PubMed ID: 23896203 |
|