Description:
MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA
LAMIN A/C; LMNA
NIA AGING CELL REPOSITORY DNA PANEL - AGING SYNDROMES
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Repository
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No Data
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| Subcollection |
Heritable Diseases |
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License Required
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Sample Source
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Subject Type
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Family Type
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Genetic Data
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| Gene |
LMNA |
| Chromosomal Location |
1q21.2 |
| Allelic Variant 1 |
150330.0025; MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY |
| Identified Mutation |
ARG471CYS; Description: In a patient who was thought to have a typical progeria phenotype (176670) and was 28 years old at the time that DNA was obtained, Cao and Hegele [J. Hum. Genet. 48: 271-274 (2003)] identified compound heterozygosity for 2 missense mutations in the LMNA gene. One mutation, arg471 to cys (R471C), resulted from a 1623C>T transition. An arg527cys (R527C) substitution (150330.0026), resulting from a 1791C>T transition, was found on the other allele. These mutations were not identified in any of 100 control chromosomes. |
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| Gene |
LMNA |
| Chromosomal Location |
1q21.2 |
| Allelic Variant 2 |
150330.0026; MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY |
| Identified Mutation |
ARG527CYS; Description: See 150330.0025, Cao and Hegele [J. Hum. Genet. 48: 271-274 (2003)] and Brown (2004). |
| Bracci AN, Dallmann A, Ding Q, Hubisz MJ, Caballero M, Koren A, The evolution of the human DNA replication timing program Proceedings of the National Academy of Sciences of the United States of America120:e2213896120 2023 |
| PubMed ID: 36848554 |
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| Caballero M, Ge T, Rebelo AR, Seo S, Kim S, Brooks K, Zuccaro M, Kanagaraj R, Vershkov D, Kim D, Smogorzewska A, Smolka M, Benvenisty N, West SC, Egli D, Mace EM, Koren A, Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation Human molecular genetics120:e2213896120 2021 |
| PubMed ID: 35394024 |
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| Narisu N, Rothwell R, Vrtacnik P, Rodríguez S, Didion J, Zöllner S, Erdos MR, Collins FS, Eriksson M, Analysis of somatic mutations identifies signs of selection during in vitro aging of primary dermal fibroblasts Aging cell120:e13010 2018 |
| PubMed ID: 31385397 |
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| Cao H, Hegele RA, LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). J Hum Genet48(5):271-4 2003 |
| PubMed ID: 12768443 |
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