NA05788
DNA from Fibroblast
Description:
SMITH-LEMLI-OPITZ SYNDROME; SLOS
7-@DEHYDROCHOLESTEROL REDUCTASE; DHCR7
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Gene |
DHCR7 |
| Chromosomal Location |
11q12-q13 |
| Allelic Variant 1 |
G138V; SMITH-LEMLI-OPITZ SYNDROME |
| Identified Mutation |
GLY138VAL |
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| 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 |
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| 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 |
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| 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 |
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