Description:
CODAS SYNDROME
COAGULATION FACTOR V; F5
LON PEPTIDASE 1, MITOCHONDRIAL; LONP1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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Hispanic/Latino
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Ethnicity
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Amish
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Country of Origin
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USA
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Family History
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Y
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
LONP1 |
| Chromosomal Location |
19p13.3 |
| Allelic Variant 1 |
605490.0001; CODAS SYNDROME |
| Identified Mutation |
c.2161C>G; LON PEPTIDASE 1, MITOCHONDRIAL; LONP1 |
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| Gene |
F5 |
| Chromosomal Location |
1q23 |
| Allelic Variant 1 |
; THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN |
| Identified Mutation |
c.1601G>A; COAGULATION FACTOR V; F5 |
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| Gene |
LONP1 |
| Chromosomal Location |
19p13.3 |
| Allelic Variant 2 |
605490.0001; CODAS SYNDROME |
| Identified Mutation |
c.2161C>G; LON PEPTIDASE 1, MITOCHONDRIAL; LONP1 |
| Remarks |
Clinically affected; diagnosed at 3 years of age; physical features: broad skull and flattened midface; ptosis; congenital cataracts causing visual impairment; grooved nasal tip; anteverted nares; small ears; helix hypoplasia (crumpled ears); bilateral hearing loss; pre-tragal cartilagenous bumps; high intact palate; paretic atrophic vocal cords; congenital stridor; laryngeal dysplasia (glottic narrowing); swallowing dysfunction; small patent foramen ovale; unilateral cryptorchidism; hypotonia; perennial rhinitis; environmental allergies; chronic sialorrhea causing aspiration and recurrent pneumonia; recurrent vomiting; spondoepi/metaphyseal dysplasia(skeletal survey at 1 year old shows abnormal cervical vertebrae and abnormal proximal/distal femurs); scoliosis of thoracolumbar spine (films at at 3 years of age show 45 degree curvature T2-T9 apex to the right); bilateral genu valgum; symmetric somatic and linear growth delay (5th percentile); subject ambulatory with walker by age 30 months; developmental delay; Sanger sequencing determined the subject to be homozygous for a c.2161C>G mutation in the LONP1 gene; subject is also heterozygous for the c.1601G>A mutation in the Factor 5 Leiden gene (determined by high resolution melting curve analysis) procedures include: tracheostomy, myringotomy; gastro-jejunal feeding (gastrostomy tube). [see publication by Strauss et al, PMID: 25574826]. |
| Kevin A. Strauss, Robert N. Jinks, Erik G. Puffenberger, Sundararajan Venkatesh, Kamalendra Singh, Iteen Cheng, Natalie Mikita, Jayapalraja Thilagavathi, Jae Lee, Stefan Sarafianos, Abigail Benkert, Alanna Koehler, Anni Zhu, Victoria Trovillion,
Madeleine McGlincy, Thierry Morlet, Matthew Deardorff, A. Micheil Innes, Chitra Prasad, Albert E. Chudley, Irene Nga Wing Lee, and Carolyn K. Suzuki, CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease. The American Journal of Human Genetics96:121-135 2015 |
| PubMed ID: 25574826 |
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