Clinical features and genetic analysis of a case with carnitine palmitoyltransferase 1A deficiency
OBJECTIVE: To analyze the clinical and molecular features of a child with carnitine palmitoyltransferase 1A (CPT1A) deficiency.
METHODS: Clinical data of the child was collected. Blood acylcarnitine was determined with tandem mass spectrometry. DNA was extracted from the child and his parents. All exons and flanking regions of the CPT1A gene were analyzed by PCR and Sanger sequencing.
RESULTS: Analysis showed that the patient carried compound heterozygous mutations c.1787T>C and c.2201T>C of the CPT1A gene, which derived his father and mother, respectively. Both mutations were verified as novel through the retrieval of dbSNP, HGMD and 1000 genome databases. Bioinformatic analysis suggested that the mutations can affect protein function.
CONCLUSION: Acyl carnitine analysis has been the main method for the diagnosis of CPT1A deficiency. The c.1787T>C and c.2201T>C mutations of the CPT1A gene probably underlie the disease in this patient. Gene testing can provide important clues for genetic counseling and prenatal diagnosis.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2017 |
|---|---|
| Erschienen: |
2017 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:34 |
|---|---|
| Enthalten in: |
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 34(2017), 2 vom: 10. Apr., Seite 228-231 |
| Sprache: |
Chinesisch |
|---|
| Beteiligte Personen: |
Cui, Dong [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
CPT1A protein, human |
|---|
| Anmerkungen: |
Date Completed 14.09.2017 Date Revised 03.05.2021 published: Print Citation Status MEDLINE |
|---|
| doi: |
10.3760/cma.j.issn.1003-9406.2017.02.017 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM270847669 |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM270847669 | ||
| 003 | DE-627 | ||
| 005 | 20231224231433.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231224s2017 xx |||||o 00| ||chi c | ||
| 024 | 7 | |a 10.3760/cma.j.issn.1003-9406.2017.02.017 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n0902.xml |
| 035 | |a (DE-627)NLM270847669 | ||
| 035 | |a (NLM)28397225 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a chi | ||
| 100 | 1 | |a Cui, Dong |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Clinical features and genetic analysis of a case with carnitine palmitoyltransferase 1A deficiency |
| 264 | 1 | |c 2017 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 14.09.2017 | ||
| 500 | |a Date Revised 03.05.2021 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a OBJECTIVE: To analyze the clinical and molecular features of a child with carnitine palmitoyltransferase 1A (CPT1A) deficiency | ||
| 520 | |a METHODS: Clinical data of the child was collected. Blood acylcarnitine was determined with tandem mass spectrometry. DNA was extracted from the child and his parents. All exons and flanking regions of the CPT1A gene were analyzed by PCR and Sanger sequencing | ||
| 520 | |a RESULTS: Analysis showed that the patient carried compound heterozygous mutations c.1787T>C and c.2201T>C of the CPT1A gene, which derived his father and mother, respectively. Both mutations were verified as novel through the retrieval of dbSNP, HGMD and 1000 genome databases. Bioinformatic analysis suggested that the mutations can affect protein function | ||
| 520 | |a CONCLUSION: Acyl carnitine analysis has been the main method for the diagnosis of CPT1A deficiency. The c.1787T>C and c.2201T>C mutations of the CPT1A gene probably underlie the disease in this patient. Gene testing can provide important clues for genetic counseling and prenatal diagnosis | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
| 650 | 7 | |a CPT1A protein, human |2 NLM | |
| 650 | 7 | |a EC 2.3.1.21 |2 NLM | |
| 650 | 7 | |a Carnitine O-Palmitoyltransferase |2 NLM | |
| 650 | 7 | |a EC 2.3.1.21 |2 NLM | |
| 700 | 1 | |a Hu, Yuhui |e verfasserin |4 aut | |
| 700 | 1 | |a Shen, Dan |e verfasserin |4 aut | |
| 700 | 1 | |a Tang, Gen |e verfasserin |4 aut | |
| 700 | 1 | |a Zhang, Min |e verfasserin |4 aut | |
| 700 | 1 | |a Duan, Jing |e verfasserin |4 aut | |
| 700 | 1 | |a Wen, Pengqiang |e verfasserin |4 aut | |
| 700 | 1 | |a Liao, Jianxiang |e verfasserin |4 aut | |
| 700 | 1 | |a Ma, Dongli |e verfasserin |4 aut | |
| 700 | 1 | |a Chen, Shuli |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics |d 1998 |g 34(2017), 2 vom: 10. Apr., Seite 228-231 |w (DE-627)NLM093687478 |x 1003-9406 |7 nnns |
| 773 | 1 | 8 | |g volume:34 |g year:2017 |g number:2 |g day:10 |g month:04 |g pages:228-231 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2017.02.017 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 34 |j 2017 |e 2 |b 10 |c 04 |h 228-231 | ||