Prenatal presentation and diagnosis of Baraitser-Winter syndrome using exome sequencing
© 2020 Wiley Periodicals LLC..
Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) is a rare autosomal dominant developmental disorder associated with missense mutations in the genes ACTB or ACTG1. The classic presentation of BWCFF is discerned by the combination of unique craniofacial characteristics including ocular coloboma, intellectual disability, and hypertelorism. Congenital contractures and organ malformations are often present, including structural defects in the brain, heart, renal, and musculoskeletal system. However, there is limited documentation regarding its prenatal presentation that may encourage healthcare providers to be aware of this disorder when presented throughout pregnancy. Herein we describe a case of a pregnancy with large cystic hygroma and omphalocele. Whole exome sequencing (WES) was performed and a de novo, heterozygous, likely pathogenic mutation in ACTB was detected, c.1004G>A (p.Arg335His), conferring a diagnosis of BWCFF.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2020 |
|---|---|
| Erschienen: |
2020 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:182 |
|---|---|
| Enthalten in: |
American journal of medical genetics. Part A - 182(2020), 9 vom: 21. Sept., Seite 2124-2128 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Zhang, Kermit [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
ACTG1 protein, human |
|---|
| Anmerkungen: |
Date Completed 08.06.2021 Date Revised 07.12.2022 published: Print-Electronic Citation Status MEDLINE |
|---|
| doi: |
10.1002/ajmg.a.61725 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM311668372 |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM311668372 | ||
| 003 | DE-627 | ||
| 005 | 20231225142738.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231225s2020 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1002/ajmg.a.61725 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1038.xml |
| 035 | |a (DE-627)NLM311668372 | ||
| 035 | |a (NLM)32588558 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Zhang, Kermit |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Prenatal presentation and diagnosis of Baraitser-Winter syndrome using exome sequencing |
| 264 | 1 | |c 2020 | |
| 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 08.06.2021 | ||
| 500 | |a Date Revised 07.12.2022 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © 2020 Wiley Periodicals LLC. | ||
| 520 | |a Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) is a rare autosomal dominant developmental disorder associated with missense mutations in the genes ACTB or ACTG1. The classic presentation of BWCFF is discerned by the combination of unique craniofacial characteristics including ocular coloboma, intellectual disability, and hypertelorism. Congenital contractures and organ malformations are often present, including structural defects in the brain, heart, renal, and musculoskeletal system. However, there is limited documentation regarding its prenatal presentation that may encourage healthcare providers to be aware of this disorder when presented throughout pregnancy. Herein we describe a case of a pregnancy with large cystic hygroma and omphalocele. Whole exome sequencing (WES) was performed and a de novo, heterozygous, likely pathogenic mutation in ACTB was detected, c.1004G>A (p.Arg335His), conferring a diagnosis of BWCFF | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Baraitser-Winter cerebrofrontofacial syndrome | |
| 650 | 4 | |a maternal fetal medicine | |
| 650 | 4 | |a prenatal ultrasound | |
| 650 | 4 | |a whole-exome sequencing | |
| 650 | 7 | |a ACTG1 protein, human |2 NLM | |
| 650 | 7 | |a Actins |2 NLM | |
| 700 | 1 | |a Cox, Eleina |e verfasserin |4 aut | |
| 700 | 1 | |a Strom, Samuel |e verfasserin |4 aut | |
| 700 | 1 | |a Xu, Zhuo Luan |e verfasserin |4 aut | |
| 700 | 1 | |a Disilvestro, Alexis |e verfasserin |4 aut | |
| 700 | 1 | |a Usrey, Kelly |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t American journal of medical genetics. Part A |d 2003 |g 182(2020), 9 vom: 21. Sept., Seite 2124-2128 |w (DE-627)NLM122607996 |x 1552-4833 |7 nnns |
| 773 | 1 | 8 | |g volume:182 |g year:2020 |g number:9 |g day:21 |g month:09 |g pages:2124-2128 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1002/ajmg.a.61725 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 182 |j 2020 |e 9 |b 21 |c 09 |h 2124-2128 | ||