22q12.3-q13.1 microdeletion including SOX10 causes atypical Waardenburg syndrome
PURPOSE: To identify disease associated mutations in a male infant with congenital heart defects and heterochromia.
METHODS: A detailed clinical examination and routine laboratory tests were performed on the patient. We applied whole exome sequencing to identify the causal mutation on the proband and other family members.
RESULTS: The patient presented with severe congenital heart disease, strabismus, and pigment disturbances of the iris. We identified a deletion of 1.99 megabase [arr[hg19]22q12.3-13.1 (chr22:36656004-38643920) *1], including SOX10 and 13 RefSeq genes on this patient, which was associated with atypical Waardenburg syndrome.
CONCLUSION: Our results suggest that a deletion of 1.99 megabase (including SOX10) acts as a dominant pathogenic variant on the clinical presentations of this patient with atypical Waardenburg syndrome.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2021 |
|---|---|
| Erschienen: |
2021 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:31 |
|---|---|
| Enthalten in: |
European journal of ophthalmology - 31(2021), 4 vom: 29. Juli, Seite 2127-2134 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Zhang, Wenqiu [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
Case Reports |
|---|
| Anmerkungen: |
Date Completed 19.08.2021 Date Revised 07.12.2022 published: Print-Electronic Citation Status MEDLINE |
|---|
| doi: |
10.1177/1120672120944350 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM312790376 |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM312790376 | ||
| 003 | DE-627 | ||
| 005 | 20231225145154.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231225s2021 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1177/1120672120944350 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1042.xml |
| 035 | |a (DE-627)NLM312790376 | ||
| 035 | |a (NLM)32703023 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Zhang, Wenqiu |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a 22q12.3-q13.1 microdeletion including SOX10 causes atypical Waardenburg syndrome |
| 264 | 1 | |c 2021 | |
| 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 19.08.2021 | ||
| 500 | |a Date Revised 07.12.2022 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a PURPOSE: To identify disease associated mutations in a male infant with congenital heart defects and heterochromia | ||
| 520 | |a METHODS: A detailed clinical examination and routine laboratory tests were performed on the patient. We applied whole exome sequencing to identify the causal mutation on the proband and other family members | ||
| 520 | |a RESULTS: The patient presented with severe congenital heart disease, strabismus, and pigment disturbances of the iris. We identified a deletion of 1.99 megabase [arr[hg19]22q12.3-13.1 (chr22:36656004-38643920) *1], including SOX10 and 13 RefSeq genes on this patient, which was associated with atypical Waardenburg syndrome | ||
| 520 | |a CONCLUSION: Our results suggest that a deletion of 1.99 megabase (including SOX10) acts as a dominant pathogenic variant on the clinical presentations of this patient with atypical Waardenburg syndrome | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Microdeletion | |
| 650 | 4 | |a Waardenburg syndrome | |
| 650 | 4 | |a heterochromia | |
| 650 | 4 | |a next-generation sequencing | |
| 650 | 7 | |a SOX10 protein, human |2 NLM | |
| 650 | 7 | |a SOXE Transcription Factors |2 NLM | |
| 700 | 1 | |a Xiao, Lirong |e verfasserin |4 aut | |
| 700 | 1 | |a Chen, Bingjie |e verfasserin |4 aut | |
| 700 | 1 | |a Xu, Yingwen |e verfasserin |4 aut | |
| 700 | 1 | |a Yan, Naihong |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t European journal of ophthalmology |d 1996 |g 31(2021), 4 vom: 29. Juli, Seite 2127-2134 |w (DE-627)NLM012606944 |x 1724-6016 |7 nnns |
| 773 | 1 | 8 | |g volume:31 |g year:2021 |g number:4 |g day:29 |g month:07 |g pages:2127-2134 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1177/1120672120944350 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 31 |j 2021 |e 4 |b 29 |c 07 |h 2127-2134 | ||