NA21995
DNA from Fibroblast
Description:
CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA
FIBRILLIN 2; FBN2
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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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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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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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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| PDL at Freeze |
5.06 |
| Passage Frozen |
9 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Gene |
FBN2 |
| Chromosomal Location |
5q23-q31 |
| Allelic Variant 1 |
121050.0007; CONTRACTURAL ARACHNODACTYLY, CONGENITAL |
| Identified Mutation |
ASP1114HIS; In a family in which members over 4 generations had signs and symptoms associated with CCA, Babcock et al. (Hum Genet 103:22-28,1998) identified a G-to-C transversion at nucleotide 3340 of the FBN2 gene. The 3340G-C mutation predicted an asp1114-to-his amino acid substitution and also altered the 5-prime donor splice site consensus sequence of exon 25. RT-PCR and DNA sequence analyses demonstrated that this missense mutation also caused low level in-frame missplicing of exon 25 with partial skipping of that exon. Consequently, this single point mutation produced a heterogeneous population of mutant fibrillin-2 molecules in a single individual. Despite the complex manifestation of the mutation, it was associated with a relatively mild phenotype. |
| Remarks |
Clinically affected; height 5 foot 6 inches; bilaterally dislocating patellae during childhood; chronic aches and pains in numerous joints, muscles, and tendons; tight hamstrings; dental crowding; positive wrist sign; mild thoracic scoliosis; long halluces; tight finger joints; straight elbows; genu valgus; under-developed calf muscles; abnormal external ears with an extra piece of cartilage present; myopia with astigmatism; three similarly affected daughters; donor subject has a G>C transversion at nucleotide 3340 in exon 25 of the FBN2 gene (c.3340G>C) resulting in the substitution of histidine for aspartic acid at codon 1114 [Asp1114His (D1114H)] |
| Kellogg G, Thorsson B, Cai Y, Wisotzkey R, Pollock A, Akana M, Fox R, Jansen M, Gudmundsson EF, Patel B, Chang C, Jaremko M, Puig O, Gudnason V, Emilsson V, Molecular screening of familial hypercholesterolemia in Icelanders Scandinavian journal of clinical and laboratory investigation:1-7 2020 |
| PubMed ID: 32706999 |
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| Babcock D, Gasner C, Francke U, Maslen C, A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly Human genetics103:22-8 1998 |
| PubMed ID: 9737771 |
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